Biochemistry - First Aid Flashcards

Question

Various antineoplastic and antibiotic drugs function by interfering with nucleotide synthesis:

Answer 1

1. Leflunomide 2. Mycophenolate and Ribavirin 3. Hydroxyurea 4. 6-Mercaptopurine 5. 5-Fluorouracil 6. Methotrexate, trimethoprim and pyrimethamine

Answer 2

inhibits dihydroorotate dehydrogenase

Answer 3

IMP dehydrogenase

Answer 4

ribonucleotide reductase.

Answer 5

de novo purine synthesis.

Answer 6

thymidylate synthatse.

Answer 7

dihydrofolate reductase in humans, bacteria, and protozoa respectively.

Answer 8

ATP and dATP imbalance of the nucleotide pool via feedback inhibition of ribonucleotide reductase which prevents DNA synthesis and thus decreases lymphocyte count.

Answer 9

defective purine salvage due to absent HGPRT, which converts hypoxanthine to IMP and guanine to GMP.

Answer 10

excess uric acid production and de novo purine synthesis.

Answer 11

- intellectual disability - self-mutilation - aggression - hyperuricemia - gout - dystonia

Answer 12

Allopurinol (or Febuxostat)

Answer 13

methionine and tryptophan which are only encoded by 1.

Answer 14

semiconservative and involves both continuous and discontinous (Okazaki framgent) synthesis.

Answer 15

particular consensus sequence of base pairs in the genome where DNA replication begins. May be single (prokaryotes) or multiple (eukaryotes).

Answer 16

Y-shaped region along the DNA template where leading and lagging strand are synthesized.

Answer 17

unwind DNA template at the replication fork.

Answer 18

prevent strands from reannealing.

Answer 19

a single-or double-stranded break in the helix to add or remove supercoils.

Answer 20

an RNA primer on which DNA polymerase III can initiate replication.

Answer 21

prokaryotic. It elongates the leading strand by adding deoxynucleotides to the 3' end. It elongastes the lagging strand until it reaches the primer of the preceding fragment. (5' to 3' synthesis)

Answer 22

3' to 5' exonuclease activity that "proofreads" each added nucleotide.

Answer 23

prokaryotic. It degrades RNA primer and replaces it with DNA.

Answer 24

the formation of a phosphodiester bond within a strand of double-segmented DNA (joins Okazaki fragments).

Answer 25

RNA dependent DNA polymerase taht adds DNA to 3' ends of chromosomes to avoid loss of genetic material with every duplication.

Answer 26

nucleotide substituion but codes for the same (synonymous) amino acid; often base change in the 3rd position of the codon (tRNA wobble)

Answer 27

nucleotide substitution resulting in changed amino acid (called conservative if the new amino acid is similar in chemical structure) (ex. sickle cell disease)

Answer 28

nucleotide substitution resulting in an early stop codon

Answer 29

deletion or insertion of a number of nucletoides (not divisible by 3), resulting in misreading of all nucleotides downstream, usually resulting in a truncated, nonfunctional protein

Answer 30

specific endonucleases release the oligonucleotide-containing damaged bases; DNA polymerase and ligase fill and reseal the gap

Answer 31

bulky helix-distorting lesions.

Answer 32

xeroderma pigmentosum, which prevents repair of pyrimidine dimers because of UV light exposure.

Answer 33

base-specific glycosylase recognizes altered base and creates AP site; one or more nucleotides are removed by AP-endonuclease, which cleaves the 5' end; lyase cleaves the 3' end; DNA polymerase-beta fills the gap and DNA ligase seals it

Answer 34

spontaneous/toxic deamination.

Answer 35

newly synthesized strand is recognized, mismatched nucleotides are removed and the gap is filled and resealed

Answer 36

HNPCC (hereditary nonpolyposis colorectal cancer).

Answer 37

2 ends of DNA fragments to repair double-stranded breaks.

Answer 38

ataxia telangiectasia.

Answer 39

5' to 3'. The 5' end of the incoming nucleotide bears the triphosphate (energy source for the bond).

Answer 40

N-terminus to C-terminus.

Answer 41

the triphosphate bond.

Answer 42

modified 3' OH, preventing addition of the next nucleotide (chain termination).

Answer 43

AUG. In eukaryotes, AUG codes for methionine. In prokaryotes, it codes for f-met.

Answer 44

UGA UAA UAG

Answer 45

RNA polymerase and multiple other transcription factors bind to DNA upstream from gene locus (an AT-rich upstream sequence with TATA and CAAT boxes).

Answer 46

dramatic decrease in the level of gene transcription.

Answer 47

stretch of DNA that alters gene expression by binding transcription factors.

Answer 48

site where negative regulators bind.

Answer 49

rRNA (most numerous RNA).

Answer 50

mRNA (largest RNA).

Answer 51

tRNA (smallest RNA).

Answer 52

proofreading function but they can initiate chains.

Answer 53

RNA polymerase that makes all 3 kinds of RNA.

Answer 54

Amanita phalloides (death cap mushrooms) inhibits RNA polymerase II and causes severe hepatotoxicity.

Answer 55

heterogenous nuclear RNA (hnRNA) and it is then modified to become mRNA.

Answer 56

1. capping of 5' end (addition of 7-methylguanosine cap) 2. polyadenylation of 3' end (w/ about 200 As) 3. splicing out of introns (now it is mRNA)

Answer 57

out of the nuclues into the cytosol, where it is translated.

Answer 58

cytoplasmic P-bodies, which contain exonucleases, decapping enzymes, and microRNAs.

Answer 59

1. primary transcript combines with small nuclear ribonucleoproteins (snRNPs) and other proteins to form the spliceosome 2. lariat-shaped (looped) intermediate is generated 3. lariat is released to precisely remove intron and join 2 exons.

Answer 60

mixed connective tissue disease.

Answer 61

the actual genetic info coding for protein. Introns are intervening noncoding segments of DNA.

Answer 62

combined by alternative splicing to produce a larger number of unique proteins.

Answer 63

oncogenesis and beta-thalassemia, etc.

Answer 64

- 75-90 nucleotides - secondary structure - cloverleaf form - anticodon end is opposite 3' aminoacyl end

Answer 65

the 3' end along with a high percentage of chemically modified bases. The amino acid is covalently boudn to the 3' end.

Answer 66

contains the thymine, pseudouridine, cytosine sequence necessary for tRNA-ribosome binding

Answer 67

contains dihydrouracil residues necessary for tRNA recognition by the correct aminoacyl-tRNA synthetase

Answer 68

the 3' CCA is the amino acid acceptor site

Answer 69

amino acid before and after it binds tRNA. If incorrect, the bond is hydrolyzed.

Answer 70

formation of a peptide bond.

Answer 71

the usual codon but inserts the wrong amino acid.

Answer 72

accurate base pairing is required only in the first 2 nucleotide positions of an mRNA codon so codons differing in the 3rd wobble position may code for the same tRNA/amino acid.

Answer 73

1. initiation 2. elongation 3. termination

Answer 74

GTP hydrolysis;

Answer 75

the 40S ribosomal subunit with the initiator tRNA and are released when the mRNA and the ribosomal 60S subunit assemble with the complex.

Answer 76

1. aminoacyl-tRNA binds to A site 2. rRNA catalyzes peptide bond formation, transfers growing polypeptide to amino acid in A site 3. ribosome advances 3 nucleotides toward 3' end of mRNA, moving peptidyl tRNA to P site

Answer 77

stop codon is reconized by release factor and completed polypeptide is released from the ribosome

Answer 78

the removal of N- or C- terminal propeptides from the zymogen to generat a mature protein

Answer 79

phophorylation, glycosylation, hydroxylation, methylation, acetylation and ubiquitination

Answer 80

intracellular protein involved in facilitating and/or maintaining protein folding

Answer 81

prophase, metaphase, anaphase and telophase.

Answer 82

variable duration.

Answer 83

consititutive and inactive.

Answer 84

regulatory proteins that control the cell cycle events; phase specific; activate CDKs.

Answer 85

activated and inactivated for cell cycle to progress.

Answer 86

inhibit G1 to S progression; mutations in these genes result in unrestrained cell division (Li-Fraumeni syndrome).

Answer 87

G0, they regenerate from stem cells.

Answer 88

neurons skeletal and cardiac muscle RBCs

Answer 89

G1 from G0 when stimulated.

Answer 90

hepatocytes and lymphocytes.

Answer 91

goto G0; they divide rapidly with a short G1. These are the cells most affected by chemo.

Answer 92

- bone marrow - gut epithelium - skin - hair follicles - germ cells

Answer 93

syntehsis of secretory proteins and of N-linked oligosaccharide addition to proteins.

Answer 94

peptide NTs for secretion.

Answer 95

cytosolic and organellar proteins.

Answer 96

mucus-secreting goblet cells and antibody-secreting plasma cells.

Answer 97

steroid syntehsis and detoxification of drugs and poisons; lacks surface ribosomes.

Answer 98

liver hepatocyte sand steroid hormone-producing cells of the adrenal cortex.

Answer 99

distribution center for proteins and lipids from the ER to the vesicles and plasma membrane.

Answer 100

1. modifies N-oligosaccharides on asparagine 2. adds O-oligosaccharides on serine and threonine 3. adds mannose-6 phosphate to proteins for trafficking to lysosomes

Answer 101

the sorting centers for material from outside the cell or from the Golgi, sending it to lysosomes for destruction or back to the membrane/Golgi for further use.

Answer 102

inherited lysosomal storage disorder with a defect in phophotransferase leading to failure of the Golgi to phophorylate mannose residues on glycoproteins. This causes proteins to be secreted extracellularly rather than delivered to lysosomes.

Answer 103

coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes. Often fatal in childhood.

Answer 104

abundant, cytosolic ribonucleoprotein that traffics proteins from the ribosome to the RER.

Answer 105

protein accumulation in the cytosol.

Answer 106

1. COPI 2. COPII 3. Clathrin

Answer 107

the Golgi to the Golgi (retrograde) and from the Golgi to the ER.

Answer 108

the Golgi to the Golgi (anterograde) and from the ER to the Golgi.

Answer 109

the trans-Golgi to the lysosomes; and from plasma membrane to endosomes

Answer 110

membrane-enclosed organelle involved in catabolism of very long chain fatty acids, branched chain fatty acids and amino acids.

Answer 111

barrel-shaped protein complex that degrades damaged or ubiquitin-tagged proteins.

Answer 112

cyclindrical structures composed of a helical array of polymerized heterodimers of alpha and beta tubulin. Each dimer has 2 GTP bound.

Answer 113

flagella, cilia, and mitotic spindles and centrioles. Also involved in slow axoplasmic transport in neurons.

Answer 114

slowly and collapse quickly.

Answer 115

cellular cargo toward opposite ends of microtubule tracks. | dynein, kinesin

Answer 116

retrograde to microtubule (+ to -)

Answer 117

anterograde to microtuble (- to +)

Answer 118

1. Mebendazole (anti-helminthic) 2. Griseofulvin (anti-fungal) 3. Colchicine (anti-gout) 4. Vincristine/Vinblastine (anti-cancer) 5. Paclitaxel (anti-cancer)

Answer 119

9 + 2 arrangement of microtubules

Answer 120

ATPase that links peripheral 9 doublets and casues bending of cilium by differential sliding of doublets.

Answer 121

immotile cilia due to a dynein arm defect.

Answer 122

male/female infertility due to immotile sperm and dysfunctional fallopian tube cilia. Increases the risk of ectopic pregnancy.

Answer 123

bronchiectasis, recurrent sinusitis and situs inversus.

Answer 124

1. muscle contraction 2. microvilli 3. cytokinesis 4. adherens junction

Answer 125

long, structural polymers.

Answer 126

dimeric, ATP-driven motor proteins that move along actins.

Answer 127

``` vimentin desmin cytokeratin lamins glial fibrillary acid proteins (GFAPs) neurofilaments ```

Answer 128

cholesterol, phospholipids, sphingolipids, glycolipids, and proteins.

Answer 129

epithelial cells

Answer 130

neuroglia.

Answer 131

plasma membrane with ATP site on the cytosolic side.

Answer 132

3 Na+ go out and 2 K+ come in.

Answer 133

inhibit the Na/K ATPase by binding to the K+ site.

Answer 134

directly inhibiting the Na-K ATPase which leads to indirect inhibition of Na/Ca exchange leading to increased intracellualr calcium and increased cardiac contractility.

Answer 135

collagen. It is extensively modified by posttranslational modification. It organizes and strengthens ECM.

Answer 136

- most common (90%) - bone - skin - tendon - dentin - fascia - cornea - late wound repair

Answer 137

osteogenesis imperfecta type I.

Answer 138

- cartilage - vitreous body - nucleus pulposus

Answer 139

- reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

Answer 140

uncommon. An example is the vascular type of Ehlers-Danos.

Answer 141

basement membrane basal lamina lens

Answer 142

Alport sydnrome and is targeted by autoantibodies in goodpasture syndrome.

Answer 143

1. Synthesis (RER) 2. Hydroxylation (RER) 3. Glycosylation (RER) 4. Exocytosis 5. Proteolytic Processing (outside fibroblast) 6. Cross-linking (outside fibroblast)

Answer 144

translation of collagen alpha chains (preprocollagen) - usually Gly-X-Y (proline or lysine)

Answer 145

hydroxylation of specific proline and lysine residues (requires Vitamin C; deficiency leads to scurvy)

Answer 146

Glycosylation of pro-alpha-chain hydroxylysine residues and formation of procollagen via hydrogen and disulfide bonds (triple helix of 3 collagen and alpha chains)

Answer 147

osteogenesis imperfecta.

Answer 148

exocytosis of procollagen into extracellular space

Answer 149

cleavage of disulfide rich terminal regions of procollagen, transforming it into insoluble tropocollagen

Answer 150

reinforcement of many staggered tropocollagen molecules by covalent lysine-hydroxylysine cross-linkage (by copper containing lysyl oxidase) to make collagen fibrils.

Answer 151

Ehlers Danos.

Answer 152

a genetic bone disorder (brittle) caused by many defects. The most common one being decreased production of normal collagen (AD).

Answer 153

1. multiple fractures with minimal trauma 2. blue sclerae (due to translucency of CT over choroidal veins) 3. hearing loss (abnormal ossicles) 4. dental imperfections (due to lack of dentin)

Answer 154

faulty collagen synthesis, causing hyperextensible skin, tendency to bleed and hypermobile joints.

Answer 155

joint dislocation, berry/aortic aneurysms and organ rupture.

Answer 156

- most common | - joint instability

Answer 157

- mutation in type V collagen | - joint and skin symptoms

Answer 158

- deficienct type III collagen | - vascular and oran rupture

Answer 159

CT disease caused by impaired copper absorption and transport.

Answer 160

decreased activity of lysyl oxidase (copper is a necessary cofactor)

Answer 161

brittle, kinky hair, growth retardation and hypotonia.

Answer 162

stretchy protein within skin, lungs, large arteries, elastic ligaments, vocal cords and ligamenta flava.

Answer 163

proline and glycine, nonhydroxylated forms.

Answer 164

tropoelastin with fibrillin scaffolding.

Answer 165

extracelullarly and gives elastin its elastic properties.

Answer 166

elastase which is normally inhibited by alpha1-antitrypsin.

Answer 167

a defect in fibrillin, a glycoprotein that forms a sheath aroun elastin.

Answer 168

alpha1-antitrypsin deficiency, resulting in excess elastase activity.

Answer 169

decreased collagen and elastin production.

Answer 170

amplify a desired fragment of DNA.

Answer 171

1. Denaturation 2. Annealing 3. Elongation

Answer 172

DNA is denatured by heating to generate 2 separate strands.

Answer 173

during cooling, excess premade DNA primers anneal to a specific sequence on each strand to be amplified

Answer 174

heat-stable DNA polyemerase replicates the DNA sequence following each primer

Answer 175

size separation of PCR products (smaller molecules travel further) which can then be compared to a DNA ladder.

Answer 176

DNA sample that is enzymatically cleaved into smaller pieces, electrophoresed on a gel and then transferred to a filter. The filter is then soaked in a denaturant and subsequently exposed to a radiolabeled DNA probe that recognizes and anneals to its complementary strand. The resulting double-stranded, labeled piece of DNA is visualized when the filter is exposed to film.

Answer 177

similar to southern blot except that an RNA sample is electrophoresed. Useful for studying mRNA levels which are reflective of gene expression.

Answer 178

sample protein is separated via gel electrophoresis and transferred to a filter. Labeled antibody is used to bind to relevant protein.

Answer 179

Western blot.

Answer 180

DNA-binding proteins (transription factors, etc) using labeled oligonucleotide probes.

Answer 181

thousands of nucleic acid sequences are arranged in grids on glass or silicon. DNA or RNA probes are hybridized to the chip and a scanner detects the relative amounts of compementary binding.

Answer 182

profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments.

Answer 183

single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) for a variety of applications including genotyping, clincial genetic testing, forensic analysis, cancer mutations and genetic linkage analysis.

Answer 184

the presence of either a specific antigen (direct) or a specific antibody in a pt's blood sample.

Answer 185

test antigen to see if a specific antibody is present in the pt's blood; a secondary antibody is coupled to a color-generating enzyme is added to detect the 1st Ab.

Answer 186

test antibody to see if a specific antigen is present in the pt's blood; a secondary antibody coupled to a color-generating enzyme is added to detect the Ag.

Answer 187

100% but false-positives and false-negatives do occur.

Answer 188

fluorescent DNA or RNA probe that binds to specific gene site of interest on chromosomes.

Answer 189

localization of genes and direct visualization of anomalies (microdeletions) at the molecular level (when the deletion is too small to be visualzied by karyotype).

Answer 190

1. isolate eukaryotic mRNA of interest 2. expose mRNA to reverse transcriptase to produce cDNA 3. insert cDNA fragments into bacterial plasmids containing antibiotic resistance genes 4. transform recombinant plasmid into bacteria 5. surviving bacteria on antibiotic medium produce cDNA

Answer 191

1. random insertion of gene into mouse genome | 2. targeted insertion or deletion of gene through homologous recombinatino with mouse gene

Answer 192

manipulate genes at specific developmental points (ex. to study a gene whose deletion causes embryonic death).

Answer 193

dsRNA is synthesized that is complementary to the mRNA sequence of interest. when transfecteed into human cells, dsRNA separates and promotes degradation of target mRNA, knocking down gene expression.

Answer 194

metaphase chromosomes are stained, ordered and numbered according to morphology, size, arm-length ratio and banding pattern.

Answer 195

blood, bone marrow, amniotic fluid, or placental tissue.

Answer 196

chromosomal imbalances (ex. autosomal trisomies, sex chromosome disorders).

Answer 197

both alleles contribute to the phenotype of the heterozygote | ex. blood groups; alpha-antityrpsin deficiency

Answer 198

phenotype varies among individuals with the same genotype | ex. 2 pts have NF1 may have varying disease severity

Answer 199

not all individuals with a mutant genotype show the mutant phenotype (ex. BRCA 1 gene mutations do not always result in ovarian or breast cancer)

Answer 200

one gene contributes to multiple phenotypic effects | ex. untreated PKU manifests with light skin, intellectual disability and musty body odor

Answer 201

If a pt inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops. (this is not true of oncogenes) Ex. Rb and the "two-hit" hypothesis

Answer 202

exerts a dominant effect; a heterozygote produces a nonfunctinoal altered protein that also preventsthe normal gene product from functioning (ex. mutation of a transcription factor in its allosteric site; nonfunctinoing mutant can still bind DNA, preventing wild-type transcription factor from binding)

Answer 203

tendency for certain alleles at 2 linked loci to occur together more often than expected by chance; measured in a population, not in a family

Answer 204

presence of genetically distinct cell lines in the same individual; arises from mitotic errors after fertilization

Answer 205

mutation propagates through multiple tissues or organs

Answer 206

mutation only in egg or sperm cells

Answer 207

mutations at different loci can produce a similar phenotype | Ex. albinism

Answer 208

different mutations in the same locuse produce the same phenotype (ex. beta-thalassemia)

Answer 209

presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease

Answer 210

an offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent.

Answer 211

meiosis I error.

Answer 212

a meiosis II error or postzygotic chromosomal duplication of one of a pair of chromosomes and loss of the other of the original pair.

Answer 213

a recessive disorder when only one parent is a carrier.

Answer 214

p^2 + 2pq + q^2 = 1 and p + q = 1.

Answer 215

1. no mutation occurring at the locus 2. natural selection is not occurring 3. completely random mating 4. no net migration

Answer 216

q and in females it is q^2.

Answer 217

At the same loci, only one allele is active; the other is inactive (imprinted/via methylation). With one allele inactivated, deletion of the active allele leads to disease. Ex. Prader-Willi and Angelman

Answer 218

Maternal imprinting: gene from mom is normally silent and paternal gene is deletered

Answer 219

hyperphagia, obesity, intellectual disability, hypogonadism, and hypotonia.

Answer 220

Paternal imprinting: gene from dad is normally silent and maternal gene is deleted.

Answer 221

inappropriate laughter, seizures, ataxia and intellectual disability.

Answer 222

Hypophosphatemic rickets: formerly known as vitamin D-resistant rickets; inherited disorder resulting in increased phosphate wasting at the proximal tubule

Answer 223

only through the mother. All offspring of affected mothers may show signs fo disease.

Answer 224

myopathy, lactic acidosis and CNS disease. Secondary to oxidative phosphorylation; "ragged red fibers" on muscle biopsy.

Answer 225

autosomal recessive defect in CFTR gene on chr 7; commonly a deletion of Phe508

Answer 226

an ATP-gated Cl- channel that secretes Cl- in the lungs and GI tract and reabsorbs Cl- in the sweat glands

Answer 227

misfolded protein which causes it to be retained in RER and no transported to the cell membrane causing decreased Cl- (and H2O) secretion.

Answer 228

compensatory increase in Na reabsorption via epithelial Na+ channels leading to increased H2O reabsorption leading to abnormally thick mucus secreted into the lungs and GI tract.

Answer 229

recurrent pulmonary infxns (pseudomonas), chronic bronchitis and bronchiectasis (reticulonodular pattern on CXR), pancreatic insufficiency, malabsorption, steatorrhea, nasal polyps and meconium ileus. Also infertility in males and fat-soluble vitamin deficiencies.

Answer 230

- N-acetylcysteine to loosen mucus plugs (cleaves disulfide bonds within mucus glycoproteins) - dornase alfa (DNAse to clear leukocytic debris)

Answer 231

- Bruton agammaglobulinemia - Wiskott-Aldrich - Fabry disease - G6PD deficiency - Ocular albinism - Lesch-Nyhan sydnrom - Duchenne (and Becker) muscular dystrophy - Hunter Syndrome - Hemophilia A and B - Ornithine transcarbamylase deficiency (Be Wise, Fool's GOLD Heeds Silly HOpe)

Answer 232

an X-linked frameshift mutation leading to truncated dystrophin protein leading to accelerated muscle breakdown.

Answer 233

pelvic girdle muscles and progresses superiorly. There is pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle. Gower maneuver seen (pts use upper extremity to help them stand).

Answer 234

before 5 yrs of age and dilated cardiomyopathy is a common cause of death.

Answer 235

the longest coding region of any human gene increasing its chance of spontaneous mutation.

Answer 236

anchor muscle fibers. It connects the intracellular cytoskeleton (actin) to the transmembrane proteins alpha- and beta- dystroglycan, which are connected to the ECM.

Answer 237

myonecrosis. Increased CPK and aldolase are seen. Western blot and muscle biopsy confirm diagnosis.

Answer 238

an X-linked point mutation in dystrophin gene (no frameshift). Onset is in adolescence; less severe than Duchenne.

Answer 239

CTG trinucleotide repeat expansion in the DMPK gene leading to abnormal expression of myotonin protein kinse.

Answer 240

myotonia, muscle wasting, frontal balding, cataracts, testicular atrophy, and arrhythmia.

Answer 241

an X-linked defect affecting the methylation and expression of the FMR1 gene. Trinucleotide repeat (CGG).

Answer 242

- post-pubertal macroorchidism - long face with a large jaw - large everted ears - autism - mitral valve prolapse

Answer 243

1. fragile X syndrome (CGG) 2. Friedreich ataxia (GAA) 3. Huntington disease (CAG) 4. Myotonic dystrophy (CTG) X-Girlfriend's First Aid Helped Ace My Test.

Answer 244

- intellectual disability - flat facies - prominent epicanthal folds - single palmar crease - gap between 1st 2 toes - duodenal atresia - Hirschsprung disease - congenital heart disease (esp. ASD) - Brushfield spots

Answer 245

increased risk of ALL, AML and Alzheimer.

Answer 246

meiotic nondisjunction of homologous chormosomes leading to trisomy 21.

Answer 247

- increased nuchal translucency - hypoplastic nasal bone - serum PAPP-A is decreased - free beta-hCG is increased

Answer 248

1. decreased alpha-fetoprotein 2. increased beta-hCG 3. decreased estriol 4. increased inhibin A

Answer 249

1. severe intellectual disability 2. rocker-bottom feet 3. micrognathia 4. low-set ears 5. clenched hands 6. prominent occiput 7. congenital heart disease * Death usually occurs within one year of birth. * *Trisomy 18

Answer 250

decresaed PAPP-A and free beta-hCG

Answer 251

1. decreased alpha-fetoprotein 2. decreased beta-hCG 3. decreased estriol 4. decreased/normal inhibin

Answer 252

1. severe intellectual disability 2. rocker-bottom feet 3. microphthalmia 4. microcephaly 5. cleft lip/palate 6. holoprosencephaly 7. polydacyly 8. congenital heart disease * Death usually occurs w/i one yr of birth. * *Trisomy 13

Answer 253

- decreased beta-hCG - decreased PAPP-A - increased nuchal translucency

Answer 254

nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13, 14, 15, 21, and 22.

Answer 255

the long arms of 2 acrocentric chromosomes fuse at the centromere and the 2 short arms are lost.

Answer 256

miscarriage, stillbirth, and chromosomal imablance (down syndrome, patau)

Answer 257

congenital microdeletion of the short arm of chromosome 5.

Answer 258

``` microcephaly intellectual disability high-pitched crying (mewing) epicanthal folds cardiac abnormalities (VSD) ```

Answer 259

congenital microdeletion of long arm of chr 7 (deleted region includes elastin gene).

Answer 260

- distinctive "elfin facies" - intellectual disability - hypercalcemia - well-developed verbal skills - extreme friendliness w/ strangers - CV problems

Answer 261

Cleft palate, abnormal facies, thymic aplasia (leading to T-cell deficiencies, cardiac defects and hypocalcemia secondary to parathyroid aplasia (CATCH-22)

Answer 262

aberrant devleopment of the 3rd and 4th branchial pouches.

Answer 263

A 22q11 syndrome with thymic, parathyroid and cardiac defects.

Answer 264

22q11 deletion syndrome with palate, facial and cardiac defects.

Answer 265

A, D, E and K and their absorption is dependent on gut and pancreas.

Answer 266

more common than for water-soluble vitamins because fat-soluble vitamins accumulate in the fat.

Answer 267

- antioxidant - constituent of visual pigments - needed for differentiation of epithelial cells into specialized tissue - prevents squamous metaplasia

Answer 268

measles and AML (subtype M3).

Answer 269

- night blindness (nyctalopia) - dry, scaly skin (xerosis cutis) - alopecia - corneal degernation (keratomalacia) - immune suppression

Answer 270

arhtralgias, skin changes, cerebral edema, pseudotumor cerebri, osteoporosis, hepatic abnormalities. (teratogen)

Answer 271

in thiamine pyrophosphate (TPP), a cofactor for: 1. pyruvate dehydrogenase 2. alpha-ketoglutarate dehydrogenase 3. transketolase 4. branched chain ketoacid dehydrogenase

Answer 272

impaired glucose breakdown leads to ATP depletion worsened by glucose infusion; highly aerobic tissues are affected first. This is seen in malnutrition and alcoholism.

Answer 273

increase in RBC transketolase activity following B1 adminstration.

Answer 274

confusion, ophthalmoplegia, ataxia (plus confabulation, personality change, memory loss) due to damage of the medial dorsal nucleus of the thalamus, the mammillary bodies

Answer 275

Wernicke-Korsakoff and Beriberi

Answer 276

polyneuritis, symmetrical muscle wasting

Answer 277

high-output cardiac failure, edema

Answer 278

-components of flavins FAD and FMN, used as cofactors in redox reactions

Answer 279

cheilosis and corneal vascularization

Answer 280

- consitutent of NAD+ and NADP+ - used to treat dyslipidemia - lowers levels of VLDL and raises HDL

Answer 281

tryptophan and its synthesis requires B2 and B6.

Answer 282

glossitis, pellagra (diarrhea, dementia, dermatitis)

Answer 283

facial flushing, hyperglycemia and hyperuricemia

Answer 284

essential component of CoA and fatty acid synthase

Answer 285

- dermatitis - enteritis - alopecia - adrenal insufficiency

Answer 286

- converted to pyridoxal phosphate (cofactur used in transamination, decarboxylation and glycogen phosphorylase) - synthesis of cystathione, heme, niacin, histamine, NTs

Answer 287

convulsions, hyperirritabiltity, peripheral neuropathy, sideroblastic anemias

Answer 288

- cofactor fo carboxylation enzymes: 1. pyruvate carboxylase 2. acetyl-CoA carboxylase 3. propionyl-CoA carboxylase

Answer 289

- converted to tetrahydrofolate | - imporant for the synthesis of nitrogenous bases in DNA and RNA

Answer 290

macrocytic, megaloblastic anemia - hypersegmented PMNs - glossitis

Answer 291

- increased homocysteine | - normal methylmalonic acid

Answer 292

1. phenytoin 2. sulfonamides 3. methotrexate

Answer 293

-cofactor for homocysteine methyltransferase and methylmalonyl-CoA mutase

Answer 294

- macrocytic, megaloblastic anemia - hypersegmented PMNs - paresthesias - subacute combined degeneration

Answer 295

increased homocysteine | increased methlymalonic acid

Answer 296

insufficient intake (vegans), malabsorption (spure, D. latum), lack of IF or absence of terminal ileum.

Answer 297

- antioxidant - facilitates iron absorption by reducing it to the Fe2+ state - hydroxylation of proline and lysine in collagen synthesis - dopamine beta-hydroxylase

Answer 298

scurvy (swollen gums, bruising, herarthrosis, anemia, poor wound healing, perifollicular and subperiosteal hemorrhages, "corkscrew hair"

Answer 299

nausea/vomiting/diarrhea/fatigue, calium oxalate nephrolithiasis -increased risk of iron toxicity

Answer 300

- increased intestinal absorption of calcium and phosphate | - increased bone mineralization

Answer 301

rickets in children osteomalacia in adults hypocalcemic tetany

Answer 302

sarcoidosis due to incresed activation of vitamin D by epithelioid macrophages.

Answer 303

-antioxidant (protects erythrocytes and membranes form free radical damage)

Answer 304

- hemolytic anemia - acanthocytosis - muscle weakness - posterior column and spinocerebellar tract demyelination

Answer 305

- cofactor for the gamma-carboxylation of glutamic acid residues on various proteins required for blood clotting - necessary for the activation of clotting factors II, VII, IX and X

Answer 306

intestinal flora.

Answer 307

-neonatal hemorrhage with increased PT and PTT but normal bleeding time

Answer 308

important for many enzymes and zinc fingers (transcription factor motif)

Answer 309

- delayed wound healing - hypogonadism - decresed adult hair - dysgeusia - anosmia - acrodermatitis enteropathica

Answer 310

zero-order kinetics.

Answer 311

1. pyruvate -> lactate (lactic acidosis) 2. oxaloacetate -> malate (prevents gluconeogenesis and leads to fasting hypoglycemia) 3. Glyceraldehyde 3 phosphate -> glycerol-3-phosphate (combines with fatty acids to make triglycerides leading to hepatosteatosis)

Answer 312

TCA production of NADH leading to increased utilization of acetyl-CoA for ketogenesis leading to ketoacidosis and lipogenesis leading to hepatosteatosis.

Answer 313

inhibit alcohol dehydrogenase and is an antidote for methanol or ethylene glycol poisoning.

Answer 314

inhibit acetaldehyde dehydrogenase (acetaldehyde accumulates leading to hangover symptoms).

Answer 315

protein malnutrition resulting in skin lesions, edema, liver malfunction (fatty change due to decreased apolipoprotein synthesis)

Answer 316

a small child with a swollen belly.

Answer 317

total calorie malnutrition resulting in tissue and muscle wasting, loss of subcutaneous fat and variable edema.

Answer 318

- fatty acid oxidation (beta-oxidation) - acetyl-CoA production - TCA cycle - oxidative phosphorylation

Answer 319

- glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (RER) - cholesterol synthesis

Answer 320

- Heme synthesis - Urea cycle - gluconeogenesis

Answer 321

ATP to add high-energy phosphate groups onto substrates.

Answer 322

add inorganic phosphate onto substrate without using ATP.

Answer 323

remove phosphate group from substrate.

Answer 324

catalyze oxidation-reduction reactions.

Answer 325

add hydroxyl groups onto substrates.

Answer 326

transfer CO2 groups with the help of biotin.

Answer 327

relocate a functional group within a molecule.

Answer 328

Phosphofructokinase 1 (PFK 1) Positvely regulated by: AMP and fructose-2,6-biphosphate Negatively regulated by: ATP and citrate

Answer 329

Fructose-1,6-bisphosphatase Positively regulated by: ATP and acetyl-CoA Negatively regulated by: AMP and fructose-2,6-biphosphate

Answer 330

Isocitrate dehydrogenase Positively regulated by: ADP Negatively regulated by: ATD and NADH

Answer 331

Glycogen synthase Positively regulated by: Glucose-6-phosphate, inulin and cortisol Negatively regulated by: epinephrine and glucagon

Answer 332

Glycogen phosphorylase Positively regulated by: epinephrine, glucagon, AMP Negatively regulated by: Glucose-6-phosphate, inulin, ATP

Answer 333

Glucose-6-phosphate dehydrogenase (G6PD) Positively regulated by: NADP+ Negatively regulated by: NADPH

Answer 334

carbamoyl phosphate syntehstase II

Answer 335

Glutamine-phosphoribosylpyrophosphate (PRPP) amidotransferase Negatively regulated by: AMP, IMP, GMP

Answer 336

carbamoyl phosphate synthetase I Positively regulated by: N-acetylglutamate

Answer 337

acetyl-CoA carboxylase (ACC) Positively regulated by: insulin and citrate Negatively regulated by: glucagon and palmitoyl-CoA

Answer 338

carnitine acyltransferase I Negatively regulated by: Malonyl-CoA

Answer 339

HMG-CoA synthase

Answer 340

HMG-CoA reductase Positively regulated by: insulin and thyroxine Negatively regulated by: glucagon and cholesterol

Answer 341

32 net ATP via the malate-aspartate shuttle (heart/liver) and 30 net ATP via the glycerol-3-phosphate shuttle (muscle)

Answer 342

only 2 net ATP per glucose molecule.

Answer 343

zero net ATP.

Answer 344

phosphoryl groups.

Answer 345

electrons.

Answer 346

acyl groups.

Answer 347

1 carbon units.

Answer 348

CH3 groups.

Answer 349

aldehydes.

Answer 350

catabolic processes to carry reducing equivalents away as NADH.

Answer 351

anabolic processes (steroid and fatty acid synthesis) as a supply of reducing equivalents.

Answer 352

HMP shunt.

Answer 353

1. anabolic processes 2. respiratory burst 3. CYP450 system 4. glutathione reductase

Answer 354

phosphorylation of glucose to yield glucose-6-P.

Answer 355

hexokinase or glucokinase.

Answer 356

sequester glucose in tissue. At high glucose concentrations, excess glucose is stored in the liver.

Answer 357

Hexokinase: most tissues but not liver nor beta cells of pancreas Glucokinase: liver, beta cells of pancreas

Answer 358

Hexokinase: lower (increased affinity) Glucokinase: hihger (decreased affinity)

Answer 359

Hexokinase: lower (decreased capacity) Glucokinase: higher (increased capacity)

Answer 360

Hexokinase: no Glucokinase: yes

Answer 361

Hexokinase: yes Glucokinase: no

Answer 362

Hexokinase: no Glucokinase: yes

Answer 363

same bifunctional enzyme whose function is reversed by phosphorylation by protein kinase A.

Answer 364

increased cAMP leads to increased protein kinase A leads to incrases FBPase-2 and decreased PFK-2, less glycolysis and more gluconeogenesis.

Answer 365

decreased cAMP leads decreased protein kinase A which decreases FBPase-2 and increases PFK-2 leading to more glycolysis and less gluconeogenesis.

Answer 366

mitochondrial enzyme complex linking glycolysis and the TCA cycle that is active in the fed state and inactive in the fasting state.

Answer 367

pyruvate + NAD+ + CoA --> acetyl-CoA + CO2 + NADH

Answer 368

1. pyrophosphate (thiamine; TPP) 2. FAD (riboflavin) 3. NAD (niacin) 4. CoA (pantothenate) 5. lipoic acid

Answer 369

exercise, which: - increases NAD+/NADH ratiio - increases ADP - increases Ca2+

Answer 370

lipoic acid leading to vomiting, rice-water stools, and garlic breath.

Answer 371

buildup of pyruvate taht gets shunted to lactate (via LDH) and alanine (via ALT).

Answer 372

- neuro defects - lactic acidosis - increased serum alanine

Answer 373

-increased intake of ketogenic nutrients (high fat, increased leucine and lysine)

Answer 374

1. alanine aminotransferase 2. pyruvate carboxylase 3. pyruvate dehydrogenase 4. lactic acid dehydrogenase

Answer 375

pyruvate to alanine which carries amino groups to the liver from muscle.

Answer 376

pyruvate to oxaloacetate whcih can replenish the TCA cycle or be used in gluconeogenesis.

Answer 377

pyruvate to Acetyl-CoA which is the transition from glycolysis to the TCA cycle.

Answer 378

pyruvate to lactate which is the end of anerobic glycolysis.

Answer 379

3 NADH 1 FADH2 2 CO2 1 GTP per acetyl-CoA (which ends up being equal to 10 ATP) (double everything per glucose molecule)

Answer 380

the mitochondria.

Answer 381

the same cofactors as the PDH complex (B1, B2, B3, B5, and lipoic acid).

Answer 382

the malate-aspartate or glycerol-3-phosphate shuttle.

Answer 383

complex II (at a lower energy than NADH).

Answer 384

the formation of a proton gradient that, coupled to oxidative phosphorylation, drives the production of ATP.

Answer 385

directly inhibit electron transport, causing a decreased proton gradient and block of ATP synthesis.

Answer 386

Rotenone Cyanide Antimycin A CO

Answer 387

mitochondrial ATP synthase, causing an increased proton gradient. No ATP is produced bc electron transport stops.

Answer 388

Oligomycin

Answer 389

the permeability of the membrane, causing a decreased proton gradient and increased O2 consumption. ATP synthesis stops, but electron transport continues. Produces heat.

Answer 390

1. 2,4-Dinitrophenol 2. aspirin 3. thermogenin in brown fat

Answer 391

1. pyruvate carboxylase 2. phophoenolpyruvate carboxykinase 3. fructose-1,6-bisphosphatase 4. glucose-6-phosphatase

Answer 392

- in mitochondria - requires biotin and ATP - activated by acetyl-CoA

Answer 393

- in cytosol - converts oxaloacetate to phosphoenolpyruvate - requires GTP

Answer 394

- in cytosol | - converts fructose-1,6-BP to fructose-6-P

Answer 395

- in ER | - converts glucose-6-P to glucose

Answer 396

liver. It serves to maintain euglycemia during fasting.

Answer 397

it lacks glucose-6-phosphatase.

Answer 398

1 propionyl-CoA during metabolism, which can enter the TCA cycle, undergo gluconeogenesis, and serve as a glucose source.

Answer 399

produce new glucose, since they yield only acetyl-CoA equivalents.

Answer 400

a source of NADPH from abundantly available glucose-6-P. This pathway also yields ribose for nucleotide synthesis and glycolytic intermediates.

Answer 401

phases (oxidative and nonoxidative) both of which occur in the cytoplasm. No ATP is used or produced.

Answer 402

lactating mammary glands liver adrenal cortex RBCs

Answer 403

activation of the phagocyte NADPH oxidase complex (in neutrophils, monocytes) which utilizes O2 as a substrate.

Answer 404

the immune response leading to rapid release of ROS.

Answer 405

blue-green heme-containing pigment that gives sputum its color.

Answer 406

utilize H2O2 generated by invading organisms and convert it to ROS. Pts are at risk for infection by by catalase + species capable of neutralizing their own H2O2 leaving phagocytes without ROS for fighting infection.

Answer 407

generate ROS to kill competing microbes.

Answer 408

secretory fluids and neutrophils that inhibits microbial growth via iron chelation.

Answer 409

glutathione reduced, which in turn detoxifies free radicals and peroxides.

Answer 410

hemolytic anemia due to poor RBC defense agaisnt oxidizing agents (fava beans, sulfonamides, primaquine, anti-TB drugs).

Answer 411

NADP+ into NADPH.

Answer 412

free radicals generated by inflammatory response can diffuse into RBCs and cause oxidative damage.

Answer 413

X-linked disorder more prevalent among blacks. It gives increased malarial resistance.

Answer 414

- Heniz bodies | - Bite cells

Answer 415

oxidized Hemoglobin precipitated within RBCs

Answer 416

the phagocytic removal of Heinz bodies by splenic macrophages.

Answer 417

a defect in fructokinase. It is a benign condition since fructose is not trapped in cells.

Answer 418

fructose appears in blood and urine

Answer 419

deficiency of aldolase B leading to accumulation of fructose-1-P causing a decrease in available pohsophate which results in inhibition of glycogenolysis and gluconeogenesis.

Answer 420

- hypoglycemia - jaundice - cirrhosis - vomiting

Answer 421

deficiency of galactokinase leading to accumulation of galactose.

Answer 422

- galactose appears in blood and urine - infantile cataracts - may initially present as failure to track objects or to develop a social smile

Answer 423

absence of galactose-1-phosphate uridyltransferase. Damage is caused by accumulation of toxic substances (like galactitol).

Answer 424

- FTT - jaundice - infantile cataracts - hepatomegaly - intellectual disability

Answer 425

-exclude galactose and lactose from the diet

Answer 426

E.coli sepsis in the neonate.

Answer 427

convert it to its alcohol counterpart, sorbitol, via aldose reductase. Some tissues then convert sorbitol to fructose using sorbitol dehydrogenase.

Answer 428

osmotic damage (cataracts, retinopathy and peripheral neuropathy).

Answer 429

conversion to the osmotically active galactitol via aldose reductase.

Answer 430

the brush border to digest lactose into glucose and galactose.

Answer 431

Primary - age-dependent decline due to absence of lactase-persistent allele Secondary - loss of brush border due to gastroenteritis, autoimmune disease, etc. Congenital - rare due to a defective gene

Answer 432

decreased pH and breath shows increased hydrogen content with the lactose tolerance test.

Answer 433

Mehtionine, Valine, Histidine

Answer 434

Isoleucine, Phenylalanine, Threonine, Tryptophan

Answer 435

Leucine, Lysine

Answer 436

Aspartic acid and glutamic acid | negatively charged at body pH

Answer 437

Arginine, Lysine, Histidine | His has no charge at body pH

Answer 438

periods of growth.

Answer 439

histones, which negatively bind negatively charged DNA.

Answer 440

the formation of common metabolites (pyruvate, acetyl-CoA) which serve as metabolic fuels.

Answer 441

converted to urea and excreted by the kidneys.

Answer 442

acquired (liver dz) or hereditary (urea cycle enzyme deficiencies).

Answer 443

NH4+ which depletes alpha-ketoglutarate, leading to inhibition of the TCA cycle.

Answer 444

limit protein in the diet; benzoate or phenylbutyrate; lactulose

Answer 445

- tremor (asterixis) - slurred speech - somnolence - vomiting - cerebral edema - blurred vision

Answer 446

lack of the required cofactor for carbamoyl phosphate synthetase I leading to hyperammonemia.

Answer 447

carbamoyl phosphate synthetse I deficiency however increased ornithine with normal urea cycle enzymes suggests hereditary N-acetylglutamate deficiency.

Answer 448

ornithine transcarbamylase deficiency (x-linked). It interferes with the body's ability to eliminate ammonia.

Answer 449

the first few days of life but may present with late onset.

Answer 450

orotic acid (as part of the pyrimidine synthesis pathway).

Answer 451

- increased orotic acid (in blood and urine) - decreased BUN - symptoms of hyperammonemia - no megalosblastic anemia

Answer 452

decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor. Tyrosine becomes essential and increased phenylalanine leads to excess phenylketones in the urine.

Answer 453

1. intellectual disability 2. growth retardation 3. seizures 4. fair skin 5. eczema 6. musty body odor

Answer 454

-decrease phenylalanine and increase tyrosine in diet

Answer 455

there is a lack of proper dietary therapy during pregnancy.

Answer 456

1. microcephaly 2. intellectual disability 3. growth retardation 4. congenital heart defects

Answer 457

2-3 days after birth (they are normal at birth due to maternal enzyme).

Answer 458

1. phenylacetate 2. pheyllactate 3. phenylpyruvate

Answer 459

the disorder of ARAMATIC amino acid metabolism.

Answer 460

the artificial sweetener aspartame, which contains phenylalanine.

Answer 461

congenital deficiency of homogentisate oxidase in the degradative pathway of tyrosine to fumarate.

Answer 462

dark CT, brown sclerae, urine turns black on prolonged exposure to air, debilitating arthralgia (bc homogentisic acid is toxic to cartilage)

Answer 463

1. cystathionine synthase deficiency 2. decreased affinity of cystathionine synthase for pyridoxal phosphate 3. homocysteine methyltransferase deficiency

Answer 464

decreased methionine, increased cysteine and increased B12/folate in diet.

Answer 465

greatly increased B6 and cysteine in the diet.

Answer 466

increased methionine in the diet.

Answer 467

1. increased homocysteine in urine 2. intellectual disability 3. osteoporosis 4. tall 5. kyphosis 6. lens subluxation 7. thrombosis 8. atherosclerosis (stroke and MI)

Answer 468

a hereditary defect of renal PCT and intesitnal amino acid transporter for Cysteine, Ornithine, Lysine, and Arginein (COLA).

Answer 469

precipitation of hexagonal cystine stones.

Answer 470

urinary cyanide-nitroprusside test.

Answer 471

``` urinary alkalinization (w/ potassium citrate, acetazolamide) and chelating agents (increase solubility of stones) ```

Answer 472

blocked degradation amino acids (Isoleucine, Leucine, Valine) due to decreased alpha-ketoacid dehydrogenase (B1).

Answer 473

increaesed alpha-ketoacids in the blood, esp. of leucine.

Answer 474

severe CNS defects, intellectual disability and death.

Answer 475

restriction of leucine, isoleucine and valine in the diet and thiamine supplementation

Answer 476

alpha-(1,6) bodns and linkages have alpha-(1,4) bonds.

Answer 477

undergoes glycogenolysis creating glucose-1-phosphate -> glucose-6-P which is rapidly metabolized during exercise.

Answer 478

stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels.

Answer 479

cleave glucose-1-P residues off branched glycogen until 4 remain before a branch point. Then 4-alpha-D-glucanotransferase (debranching enzyme) moves three glucose-1-Ps from the branch to the linkage. Then alpha-1,6-glucosidase (debranching enzyme) cleaves off the last glucose 1-P on the branch.

Answer 480

the one to four residues remaining on a branch after glycogen phosphorylase has already shortened it.

Answer 481

alpha-1,4-glucosidase (acid maltase).

Answer 482

1. Von Gierke Disease 2. Pompe Disease 3. Cori Disease 4. McArdle Disease

Answer 483

- severe fasting hypoglycemia - increased glycogen in liver - increased blood lactate - hepatomegaly

Answer 484

Glucose-6-phosphatase

Answer 485

frequent oral glucose/cornstarch; avoidance of fructose and galactose

Answer 486

-cardiomyopathy leading to early death

Answer 487

-lysosomal alpha-1,4-glucosidase (acid maltase)

Answer 488

-milder form of von gierke with normal blood lactacte levels

Answer 489

debranching enzyme (alpha-1,6-glucosidase) | gluconeogenesis is intact

Answer 490

-increased glycogen in muscle but cannot break it down leading to painful muscle cramps, myoglobinuria with exercise, and arrhythmia from electrolyte abnormalities

Answer 491

skeletal muscle glycogen phophorylase | myophosphorylase

Answer 492

1. Fabry Disease (XR) 2. Gaucher Disease (AR) 3. Niemann-Pick Disease (AR) 4. Tay-Sachs (AR) 5. Krabbe Disease (AR) 6. Metachromatic leukodystropy (AR)

Answer 493

1. Hurler Syndrome (AR) | 2. Hunter Syndrome (XR)

Answer 494

-peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease

Answer 495

alpha-galactosidase A

Answer 496

ceramide trihexoside

Answer 497

- hepatosplenomegaly - pancytopenia - aseptic necrosis of femur - bone crises - Gaucher cells

Answer 498

lipid-laden macrophages resembling crumpled tissue paper.

Answer 499

recombinant glucocerebroside.

Answer 500

glucocerebrosidase (beta-glucosidase)

Answer 501

glucocerebroside

Answer 502

- progressive neurodegeneration - hepatosplenomegatly - cherry red spot on macula - foam cells (lipid-laden macrophages)

Answer 503

sphingomyelinase

Answer 504

sphingomyelin

Answer 505

- progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly

Answer 506

hexosaminidase A

Answer 507

GM2 ganglioside

Answer 508

- peripheral neuropathy - developmental delay - optic atrophy - globoid cells

Answer 509

galactocerebrosidase

Answer 510

galactocerebroside psychosine

Answer 511

- central and peripheral demyelination with ataxia | - dementia

Answer 512

arylsulfatase A

Answer 513

cerebroside sulfate

Answer 514

- developmental delay - gargoylism - airway obstruction - corneal clouding - hepatosplenomegaly

Answer 515

-alpha-L-iduronidase

Answer 516

heparan sulfate, dermatan sulfate

Answer 517

- mild Hurler + aggressive behavior | - no corneal clouding

Answer 518

iduronate sulfatase

Answer 519

heparan sulfate, dermatan sulfate

Answer 520

Tay-Sachs, Niemann-Pick and Gaucher.

Answer 521

carnitine-dependent transport into the mitochondrial matrix.

Answer 522

inability to transport LCFAs into the mitochondria, resulting in toxic accumulation.

Answer 523

weakness, hypotonia and hypoketotic hypoglycemia.

Answer 524

- increased dicarboxylic acids | - decreased glucose and ketones

Answer 525

acetoacetate and beta-hydroxybutyrate (to be used in the muscle and brain).

Answer 526

oxaloacetate.

Answer 527

NADH which shunts oxaloacetate to malate.

Answer 528

a buildup of acetyl-CoA, which shunts glucose and FFA toward the production of ketone bodies.

Answer 529

the breath to smell like acetone (fruity odor).

Answer 530

beta-hydroxybutyrate.

Answer 531

- glycolysis - aerobic respiration - insulin stimulates storage of lipids, proteins and glycogen

Answer 532

- hepatic glycogenolysis - hepatic gluconeogenesis - adipose release of FFA - glucagon and adrenaline stimulate use of fuel reserves

Answer 533

1. hepatic glycogenolysis (glycogen reserves depleted after day 1) 2. adipose release of FFA 3. muscle and liver shift fuel use from glucose to FFA 4. hepatic gluconeogenesis from peripheral tissue lactate and alanine, and from adipose tissue glycerol and propionyl-CoA

Answer 534

use ketones.

Answer 535

- adipose stores (ketone bodies become main fuel for brain) | * after ketone bodies are depleted, vital protein degradation accelerates leading to organ failure and death

Answer 536

catalyzed by HMG-CoA reductase (induced by insulin) which converts HMG-CoA to mevalonate.

Answer 537

lecithin-cholesterol acyltransferase (LCAT).

Answer 538

dietary triglycerides in the small intestine.

Answer 539

degradation of TG circulatin gin chylomicrons and VLDLs. Found on vascular endothelial surface.

Answer 540

TG remaining in IDL.

Answer 541

degradation of TG stored in adipocytes.

Answer 542

esterification of cholesterol.

Answer 543

transfer of cholesterol esters to other lipoprotein particles.

Answer 544

mediates remnant uptake

Answer 545

activates LCAT

Answer 546

lipoprotein lipase cofactor

Answer 547

mediates chylomicron secretion

Answer 548

binds LDL receptor

Answer 549

1. E 2. A-1 3. C-II 4. B-48

Answer 550

1. E | 2. B-48

Answer 551

1. E 2. C-II 3. B-100

Answer 552

1. E | 2. B-100

Answer 553

1. E 2. A-I 3. C-II

Answer 554

cholesterol, TGs, and phopholipids.

Answer 555

cholesterol.

Answer 556

liver to tissues.

Answer 557

periphery to liver.

Answer 558

dietary TGs to peripheral tissue and cholesterol to the liver in the form of chylmomicron remnants.

Answer 559

intestinal epithelial cells.

Answer 560

hepatic TGs to peripheral tissues. Secreted by liver.

Answer 561

the degradation of VLDL. Delivers TGs and cholesterol to the liver.

Answer 562

hepatic lipase modification of IDL in the peripheral tissue.

Answer 563

receptor-mediated endocytosis.

Answer 564

apoC and apoE (which are needed for chylomicron and VLDL metabolism).

Answer 565

liver and intestine. Alcohol increases the synthesis.

Answer 566

chylomicrons, TG and cholesterol.

Answer 567

lipoprotein lipase deficieny or altered apolipoproteinC-II

Answer 568

pancreatitis, hepatosplenomegaly, and eruptive/pruritic xanthomas. (no increased risk of atherosclerosis)

Answer 569

LDL and cholesterol.

Answer 570

absent or defective LDL receptors | (heterozygotes have cholesterol about equal to 300 and homozygotes have cholesterol about 700.

Answer 571

accelerated atherosclerosis (MIs before age 20), tendon xanthomas (Achilles), and corneal arcus.

Answer 572

VLDL and TG.

Answer 573

hepatic overproduction of VLDL leading to pancreatitis.