πBIOCHEM PEALS COMPLETE Flashcards
Inability to repair mismatch strand
Hereditary nonpolyposis colon
Inability to repair thymine dimers
Xeroderma pigmentosum
Triple repeat expansion
Huntington disease
Caloric deprivation is relatively greater than the reduction in protein
Marasmus
Alcohol leads to fat accumulation in the liver
Fatty liver
Cerebrohepatorenal syndrome due to absence of peroxisomes
Zellweger Syndrome
Defect in peroxisomal activation of VLCFA leads to accumulation of VLCFA in the blood and tissues
X-linked adrenoleukodystrophy
Accumulation of phytanic acid
Refsumβs disease
Hypoglcin from unripe fruit of the akee tree inactivates medium and short chain actylCoA dehydrogenase
Jamaican vomiting sickness
Excess TAGs and chylomicrons in blood leads to deposition in liver, skin, pancreas
Type I hyperglyceridemia
Genetic absence of lipoprotein lipase
Elevated LDL cholesterol with increased risk for atherosclerosis and coronary artery disease
Type II Hypercholesterolemia
LDL receptor deficiency
Accumulation of fat in intestinal enterocytes and hepatocytes, with deficiency in fat-soluble vitamins and essential fatty acids
Abetalipoproteinemia
Failure to thrive, salt-wasting, hypoglycemia, ambiguous genitalia
CAH
Mental retardation, cherry red spot on macula, lysosomes with onion skin (but no heoatosplenomegaly) from accumulation of GM2 ganglioside
Tay-Sachs Disease
Mental retardation, aseptic necrosis of femur, enlarged liver and spleen from accumulation of glucosylceramide
Gaucherβs disease
Mental retardation, enlarged liver and spleen, cherry red spot on macula, foam cells from accumulation of sphingomyelin
Niemann-pick disease
Acute arthritis with deposition of uric acid crystals
Gout
Gout and self mutilation
Lesch-Nyhan Syndrome
HGPRT deficiency
Severe combined immunodeficiency
ADA
Abnormal growth Megaloblastic anemia, orotate in urine
Orotic acid urea
Sickle cell disease
Point mutation
Protein deprivation that is relative greater than the reduction in total calories
Kwashiorkor
Photosensitivity, chronic inflammation to overt blistering and shearing in exposed areas of the skin due to defects in heme synthesis
Porphyrias
Mental retardation from blocked degradation of branched-chain amino acids
MSVD
Staghorn calculi due to inherited defect of renal tubular amino acid transporter
Cystinuria
Atherosclerosis, lens subluxation, stroke, myocardial infarction, osteoporosis, tall stature
Homocystinuria
Decreases pigmentation that increases risk for skin cancer
Albinism
Urine turns black upon standing with debilitating arthralgias
Alkaptonuria
Musty body odor, mental retardation, growth retardation, fair skin, eczema
Phenylketonuria
Severe mental retardation, coarse facial features, and skeletal abnormalities from accumulation of partially degraded glycoproteins in lysosomes
I-cell disease
Impaired transfer of copper from intestinal mucosal cells to the blood leading to growing retardation, mental deficiency and kinky hair
Menkeβs syndrome
Hepatolenticular degeneration from accumulation of copper in tissues, with low levels of ceruloplasmin
Wilsonβs disease
Panacinar emphysema and liver failure
A-1 antitrypsin deficiency
Aortic dilatation, dolichostenomelia, arachnodactyly
Mafran syndrome
Hereditary nephritis with sensorineural hearing loss
Alportβs syndrome
The skin breaks and blisters as a result of minor trauma
Epidermolysis bullosa
Loose teeth, sore spongy gums, poor wound healing, petechiae on skin and mucous membranes
Scurvy
Berry aneurysms, hyperextensible skin, hypermobile joints, tendency to bleed
Ehlers-Danlos Syndrome
Blue sclera, multiple fractures, conductive hearing loss
Osteogenesis imperfecta
Spectrin deficiency causes spherical RBCs that are rapidly culled by the spleen
Hereditary spherocytosis
Synthesis of b-chains is decreased or absent
Beta thalassemia
Synthesis of a-chains is decreased or absent
Alpha thalassemia
Glutame is replaced by valine at position 6 of the b-globin chain, causing hemoglobin that polymerizes inside the RBC
Sickle cell disease
Fetal neurodenegerative diseases characterized by spongiform changes, astrocytic gliomas and neuronal loss
Prion disease
Progressive cognitive and behavioral impairment due to accumulation of amyloid plaques in the hippocampus and cerebral cortex
Alzheimerβs disease
Fructosuria, severe hypoglycemia, lactic acidosis, liver damage, jaundice
Fructose intolerance (Aldolate B deficiency)
Benign fructosuria
Fructokinase deficiency
Galactosemia, galactosuria, cataracts in averagely childhood
Galactokinase deficiency
Cataracts within a few days of birth, vomiting and diarrhea after milk ingestion, lethargy, hypotonia, mental retardation
Classic Galactosemia
Galactose 1P uridyltransferase deficiency
Recurrent pyogenic infections due to impairment of respiratory burst of neutrophils and monocytes
Chronic Granulomatous disease (NADPH oxidase deficiency)
Decreased NADPH in RBCs leads to hemolytic anemia due to poor RBC defense against oxidizing agents
G6PD deficiency
Myoglobinuria with strenuous exercise
McArdle syndrome
Hepatomegaly, milder form of Von Gierke disease
Cori disease (debranching enzyme deficiency)
Cardiomegaly and heart failure from impaired glycogen metabolism
Pompe disease
Severe fasting, hypoglycemia, hepatomegaly, elevated glycogen in liver
Von Gierke disease
Glucose 6-phosphate deficiency
Flatulence, cramps and diarrhea after ingestion of dairy products
Lactose intolerance
Chronic hemolytic anemia, most common enzyme defect in glycolysis
Pyruvate kinase deficiency
These antibiotics bind to the 50S subunit and inhibit translocation
Clindamycin and macrolides
Erythromycin, Azithromycin
These antibiotic prevents binding of aminoacyl-tRNAs to the A site
Tetracycline
This antibiotic inhibits prokaryotic peptidyltransferase and peptide bond formation
Chloramphenicol
This antimycobacterial drug inhibits DNA-dependent RNA polymerase
Rifampicin
Toxicity from this antimycobaterial drug may be alleviated by administration of vitamin B6
Isoniazid
This antineoplastic drug inhibits thymidylate synthase and causes thymine-less cell death
5-Flouriuracil
These antibiotics interfere with bacterial DNA synthesis by inhibiting topoisomerase type II
Flouroquinolones (Ciprofloxacin, ofloxacin, Levofloxacin, Moxifloxacin)
This antibiotic interferes with bacterial DNA synthesis by inhibiting dihydrofolate reductase
Trimethoprim (co-trimoxazole)
Inhibits xanthine oxidase, used in the treatment of gout
Allopurinol
Inhibits HMG CoA reductase, used in the treatment of Hypercholesterolemia
Statins
Anti-inflammatory drugs that inhibit phospholipase A2 and decrease the production of arachnidonic acid
Steroids
These drugs decrease inflammation by reversibly inhibiting cyclooxygenase
NSAIDS
These drugs decrease inflammation by selectively inhibiting cyclooxygenase-2
Celecoxib, Etoricoxib
This drug irreversibly inhibits cyclooxygenase
Aspirin
This drug decreases inflammation in asthma by inhibiting lipooxygenase
Zileuton
These drugs are useful in asthma because they inhibit leukotriene receptors
Montelukast
This prostaglandin is useful in impotence and in keeping the ductus arteriosus patent
PGE1 (Alprostadil)
Oral antidiabetic drugs that reduce postprandial hyperglycemia by inhibiting the conversion of complex starches, oligosaccharides, and disaccharides into monosaccharides
a-Glucosidase inhibitors
These antibiotics interfere with bacterial DNA synthesis by competitively inhibiting dihydropteroate synthase
Sulfonamides
Conversion of proinsulin to insulin
Post-translational
Hydroxylation of collagen
Post-translational
Removal of introns
Post-transcriptional
Methylguanosine cap
Post-transcriptional
Give the codon coding for methionine
AUG
Give the 3 stop codon
UGA, UAA, UAG
Incoming aminoacyl tRNA
A site
Growing peptide chain
P site
Empty tRNA
E site
Codon always code for theme amino acid
Specific
Given amino acid may have more than one codon coding for it
Degenerate
Conversed from every early stages of evolution
Universal
mRNA processing and gene regulation
snRNA
3β-CCA sequence
tRNA
Poly-A tail
mRNA
Presence of unusual bases
tRNA
Carries genetic information from nuclear DNA to the cytosol
mRNA
Seals the nick between Okazaki fragments
Ligase
Excision of primers
DNA polymerase I
Elongation of leading strand
DNA polymerase III
maintains the separation of the parental strand
SS-DNA Binding Protein
Synthesis of RNA primer
Primase
Identifies origin of replication
DNA A protein
Removes superocoils
Topoisomerase
Unwinds double helix
Helikase
Sigma factor
Transcription
Lac Operon
Transcription
Shine Dalgarno sequence
Translation
Hogness box
Transcription, Eukaryotic
Pribnow box
Transcription, Prokaryotic
RNA to DNA
Reverse Transcription
DNA to DNA
Replication
RNA to protein
Translation
DNA to RNA
Transcription
More susceptible to hydrolysis
RNA
Usually double stranded
DNA
Uracil
RNA
Chargaffβs rules
DNA
Which enzymes convert AMP to ADP and GMP to GDP?
Monophosphate Kinase
What enzyme converts ribonucleotides to deoxyribonucleotides?
Ribonucleotide Reductase
What is the parent pyramidine?
OMP
What is the parent purine?
IMP
Ring can be opened and degraded to highly soluble structures
Pyramidine
Cytosine, uracil, thymine
Pyrimidine
Adenine, guanine, hypoxanthine
Purine
Ring is constructed on a performed ribose 5-phosphate
Purine
APRT and HGPRT for salvage pathway
Purine
PRPP is donor of ribose 5-phosphate
Purine and pyrimidine
Inorganic substance of bones and teeth
Fluorine
Thyroid hormone synthesis
Iodine
Cytochrome oxidase, dopamine b-hydroxylase, monoamine oxidase, tyrosinase
Copper
Carbonic anhydrase, alcohol dehydrogenase, DNA and RNA polymerase
Zinc
Glutathione peroxidase
Selenium
Anemia and hemochromatosis
Iron
Conversion of propionyl CoA to glucose
Biotin; Vitamin B12
Increase iron absorption
Vitamin C
Anencephaly and spina bifida
Folic acid
Deficiency may result in hemolysis
Vitamin E
Teratogenic
Vitamin A
Retrieval of glucose residues from glycogen
Vitamin B6
Megaloblastic anemia
Vitamin B12/Folic acid
Co-factor for acyl transfers and component of fatty acid synthase
Vitamin B5
Diarrhea, dementia, dermatitis
Vitamin B3
Carboxylation of glutamic acid residues in coagulation factors
Vitamin K
All aminotranferases
Vitamin B6
Condensation of glycine and succinyl CoA
Vitamin B6
Hartnup disease
Vitamin B3
Hydroxylation of collagen
Vitamin C
Acetyl CoA to Malonyl CoA
Biotin
Normalizes calcium levels in response to hypocalcemia
Vitamin D
Prevents atherosclerotic plaque formation
Vitamin E
Transketolase reactions in the HMP shunt
Vitamin B1
Phosphorylation glycogen synthase
Inhibited
High cAMP HMG CoA synthase
Activated
High epinephrine HMG CoA reductase
Inhibited
Low glucagon
Pyruvate kinase
Activated
High insulin
Glucose 6-phosphatase
Inhibited
Oligosaccharide in blood type B
Galactose
Determines charge selectiveness of renal glomerulus
Heparan sulfate
Attracts water into the ECM
Hyaluronic acid
Oligosaccharide in blood type A
N-Acetylgalactosaminase
Immunologic molecules
Immunoglobulins