Biochemistry Flashcards

1
Q

I-cell Disease (Mucolipidosis II)

A
  • Defective UDP-N-acetylglucosamine-1-phosphotransferase
  • Hydrolases secreted (because mannose is not phosphorylated in golgi)→ misshapen bones, clouded corneas, restricted joints, and hyperplastic gums, “gargoyle facies”
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2
Q

Ornithine Transcarbamylase Deficiency

A
  • Urea cycle disorder → hyperammonemia and increased orotic acid excretion in urine
  • Treat by limiting protein intake so that excess ammonia is not produced, eat just enough to get essential amino acids
    (Carbomoyl Phosphate Synthetase and N-acetyl glutamate are in the step before and will not produce excess orotic acid)
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3
Q

N-Acetylglutamate

A
  • Essential to activate carbamoyl phosphate synthase (CPS1) in Urea cycle
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4
Q

Dihydrobiopterin Reductase Deficiency

A

-Low BH4 (which is needed for conversion of tyrosine –> DOPA by tyrosine hydroxylase)
- BH4 needed as cofactor for synthesis of Tyrosine, DOPA, serotonin, and NO
(in pathway for both Phenylalanine and Tryptophan)

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5
Q

Menke’s Disease

A

Kinky hair disease, low copper

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6
Q

Fructose 2,6 bisphosphate

A
  • Fructose 2,6 bisphosphate activates glycolysis by inducing PFK1 and inhibiting fructose 1,6 bisphosphatase to stop gluconeogenesis
  • Fed: PFK2 makes fructose 2,6 and also activates PFK1 to go towards glycolysis
  • Starved: FBP makes fructose 2,6 go to fructose 6 towards gluconeogenesis

[Insulin increases Fructose 6P promoting PFK2 activity –> fructose 2,6, bisphosphate and glycosysis]

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7
Q

Splice Sites

A

GT at 5’ (GU in RNA) and AG at 3’

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8
Q

Supplementation for Children w/ Measles

A

Vitamin A

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9
Q

Aldose Reductase

A

Contributes to buildup of product in eye → cataract

  • Glucose to sorbitol
  • Galactose to galactitol
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10
Q

Fructokinase Deficiency vs Aldolase B Deficiency

A

Fructokinase deficiency: benign fructosuria

Aldose B: severe fructose intolerance w/ hypoglycemia

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11
Q

Pyrimidine Dimer Removal by:

A

Nucleotide Excision Repair

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12
Q

Reactions requiring Pyridoxine (B6)

A

Transamination reactions or Decarboxylation

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13
Q

Hartnup Disease

A
  • Defective amino acid transport → diarrhea, dementia, dermatitis (resembles pellagra/niacin deficiency)
  • Malabsorption of tryptophan (aromatic neutral AA’s) → aminoaciduria
  • Treat with Niacin (B3)
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14
Q

Fanconi Syndrome

A

Generalized aminoaciduria (all amino acids)

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15
Q

Calories

A

Proteins: 4
Carbs: 4
Fats: 9

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16
Q

Blotting

A

SNoW DRoP

  • Northern: RNA
  • Southern: DNA
  • Western: Protein
  • Southwestern: DNA binding proteins (e.g. transcription factors, histones, nucleases)
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17
Q

Maple Syrup Urine Disase

A
  • Impaired degradation of isoleucine, leucine, and valine

- Burnt sugar smell in diaper

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18
Q

Niemann-Pick Disease

A
  • Sphingomyelinase deficiency
  • Progressive neurologic deterioration
  • Cherry Red Spot
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19
Q

Lesch-Nyhan Syndrome

A

HGPRT deficient → defective pruine salvage → hyperuricemia/gout, self-mutilation, retardation, dystonia
- Because of failure of the purine salvage pathway → de novo purine synthesis must increase to replace the lost bases → PRPP amidotransferase activity will increase

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20
Q

GLUT4 and GLUT2 Transporter

A

GLUT4 transporter: insulin dependent (increases translocation to cell membrane); skeletal muscle and adipose tissue
GLUT2: regulates insulin release; hepatocytes

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21
Q

Niacin (B3)

A
  • NAD+ constituent
  • Tryptophan is a precursor
  • Flushing
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22
Q

Homocystinuria

A
  • May resemble Marfan’s (long limbs, tall, subluxation of lenses) but also has mental retardation
  • Buildup of methionine (homocysteine is remethylated by salvage pathway)
  • Cystathionine synthase deficiency
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23
Q

RNA Polymerases

A

I: rRNA
II: mRNA
III: tRNA

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24
Q

Mitochondrial Myopathy

A

Ragged red fibers and Gomori trichrome

- Mitochondrial inheritance (maternal); heteroplasmy

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25
Q

Kreb’s Cycle: NADH, FADH, GTP production

A
NADH made: 
- Isocitrate to a-ketoglutarate
- a-ketoglutarate to succinyl coA
- Malate to oxaloacetate
FADH made:
- Succinate to fumarate
GTP made:
- Succinyl CoA to Succinate
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26
Q

Exclusively Ketogenic Amino Acids

A

Lysine and Leucine

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27
Q

Amino Acid binding site on tRNA

A

CCA at 3’ end

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28
Q

Apolipoprotein: A1

A

LCAT activation (esterification of cholesterol)

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29
Q

Apolipoprotein: B48

A

Chylomicron assembly and secretion by intestine

Produced by intestinal enterocytes (Truncated form of ApoB100)

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30
Q

Apolipoprotein: B100

A

LDL uptake by extrahepatic cells

Produced by hepatocytes

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31
Q

Apolipoprotein: CII

A

LPL activation

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32
Q

Apolipoprotein: E3 & E4

A

VLDL and chylomicron remnant uptake by liver

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33
Q

mRNA Stop Codons

A

UGA, UAG, UAA

  • Binds releasing factor
  • Last amino acid will be the codon before
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34
Q

Thiamine (B1) required for:

A
  • Pyruvate dehydrogenase
  • Transketolase (part of PPP)
  • a-ketoglutarate dehydrogenase
  • Branched-chain
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35
Q

PPP (Pentose Phosphate Pathway)

A
  • HMP Shunt
  • Takes place in the cytosol (e.g. Ketolase)
  • G6PD enzyme
  • Produces NADPH
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36
Q

Mitochondrial Processes

A
  • Beta oxidation of FAs
  • Ketogenesis
  • Krebs cycle
  • Parts of urea cycles
  • Pyruvate carboxylation
  • Parts of heme synthesis
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37
Q

Phenylalanine Conversions

A

Phenylalanine (via tyrosine hydroxylase) → tyrosine:

  • Tyrosine → DOPA → dopamine
  • Tyrosine → homogentisate →→→ fumarate
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38
Q

Propionic Acidemia

A

Propionic acid buildup due to propionyl CoA carboxylase deficiency which converts it to methylmalonyl coA

  • Val, Ile, Met, Thr
  • Odd chain FA’s
  • Cholesterol branches
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39
Q

LAC Operon: Lactose binds ____

A
  • Lactose binds repressor preventing it from binding the operon
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40
Q

______ converts Pro-carcinogens into Carcinogens

A

CYP450s (microsomal monooxygenase)

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41
Q

LAC Operon: Repressor binds _____

A
  • Repressor binds operon (not promoter)
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42
Q

LAC Operon: RNA pol binds _____

A
  • RNA pol binds promoter
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43
Q

LAC Operon: cAMP-CAP binds _____

A
  • cAMP-CAP binds upstream of promote
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44
Q

LAC Operon: Glucose Present

A
  • If glucose is present, it decreases adenylate cyclase –> decreases cAMP –> decreased expression of lac operon proteins
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45
Q

P-Bodies

A

mRNA is processed in nucleus (introns removed, capped and tailed) and enters cytoplasm where P bodies regulate translation and degradation of mRNA

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46
Q

When pH > pKa:

A

H+ protons dissociate

Eg. At 7.4 pH, pKa 2.2 (COOH would be COO-)

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47
Q

When pH

A

H+ protons bind

Eg. At 7.4 pH, pKa 10.2 (NH2 would be NH3+)

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48
Q

Hyperchylomicronemia (I)

A
  • Very high level of chylomicrons (milky)

- May develop pancreatitis due to hypertriglyceridemia due to LPL deficiency

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49
Q

Familial Hypercholesterolemia (IIA)

A

Tendon xanthomas and xanthelasmas (eye-lids)

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50
Q

tRNA: D arm and T arm Function

A
  • Close to 90 nucleotides in length of non-coding RNA
  • D arm: has dihydrouracils, used to recognize the correct aminacyl tRNA synthetase
  • T arm: has a sequence needed for tRNA to bind ribosome
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51
Q

Methylmalonyl-CoA to Succinyl-CoA requires ______

A
B12 only (isomerization reaction)
- defects in this reaction lead to methylmalonic acidemia
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52
Q

7-a-hydroxylase

A

Converts cholesterol into bile acids (decreasing chance of gallstone formation)

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53
Q

B-glucoronidase

A

Released secondary to infection by injured hepatocytes and bacteria → hydrolysis of bilirubin glucoronides → increased unconjugated bilirubin in bile
- Increased risk of Brown pigment gallstones

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54
Q

PABA

A

Folic acid precursor in prokaryotes; Huamns cannot convert it to folic acid, so need dietary folic acid

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55
Q

Pyruvate Dehydrogenase & a-Ketoglutarate Dehydrogenase Require Co-factors:

A

B 1, 2, 3, 5 and lipoic acid

- Lipoic acid inhibited by arsenic

56
Q

Biotin (B7) required for:

A
  • Pyruvate to OAA
  • Acetyl CoA to Malonyl CoA
  • Propionyl CoA to Methylmalonyl CoA
57
Q

ETC Complex Inhibitors

A

Complex 1: Rotenone
Complex III: Antimycin A
Complex IV: CO, Cyanide
Complex V (ATP synthase): Oligomycin

58
Q

Neonatal E. Coli Sepsis with ______

A

Classic Galactosemia

59
Q

Urea Cycle: 3 Types

A
  • Carbamoyl Phosphate synthetase 1
  • N-acetylglutamate cofactor
  • Ornithine Transcarbamylase
60
Q

Homocystinuria: 3 Types

A
  • Cystathionine synthase deficiency
  • Decreased affinity for PLP (B6)
  • Homocysteine methyltransferase deficiency
61
Q

Cystinuria

A
  • Hereditary defect in amino acid transporter
  • Cysteine, Ornithine, Lysine, Arginine (COLA)
  • Cysteine stones (hexagonal)
62
Q

Niacin (NAD+) can be synthesized endogenously from _______

A

Tryptophan

63
Q

Vit A Overdose

A
  • Intracranial edema
  • Skin changes
  • Hepatosplenomegaly - It is also a teratogen
64
Q

Cells that cannot use Ketone Bodies

A

RBC’s: lack mitochondria

Hepatocytes: lack succinyl Coa acetoacetate CoA transferase (thiopherase)

65
Q

Refsum Disease

A

Defect in peroxisomal alpha oxidation → neurologic disturbances due to phytanic acid accumulation
- Treat by avoiding chlorophyll in diet

66
Q

Peroxisomes break down ________

A

Very long chain fatty acids & fatty acids w/ branch points at odd number carbons that cannot undergo beta oxidation in mitochondria

67
Q

Glycerol Kinase

A
  • Liver specific enzyme
  • Glycerol is phosphorylated by G3P
  • Only the liver can use glycerol produced by triglyceride degradation via hormone sensitive lipase
68
Q

Detect a Reducing Sugar w/ _______

A

Copper reduction test (eg. for fructose)

69
Q

Homeobox genes

A

Code for transcription regulators (role in morphogenesis)

70
Q

Hyperammonemia depletes:

A
  • A-ketoglutarate: causing inhibition of Krebs cycle

- Glutamate: causing glutamine accumulation → astrocyte swelling/dysfunction

71
Q

DNA laddering

A

Due to apoptosis: DNA fragments appearing in multiples of 180 bp due to cleavage by endonucleases

72
Q

Palmitoylation

A

Increases protein hydrophobicity by anchoring receptor carboxyl tails to the plasma membrane

73
Q

Beta oxidation

A

First step is done by acetyl coa dehydrogenase

  • Done in states of starvation
  • Impaired if hypoglycemia is seen with low ketones
74
Q

Allelic Heterogeneity

A

Different mutations in the same locus cause similar phenotypes

75
Q

Prader Willi

A

Father deleted, mother silenced

76
Q

Angelman

A

Mother deleted, father silenced

77
Q

Cellular differentiation is determined by _________

A

Transcription factors

78
Q

Gaucher

A

Glucocerebrosidase deficiency, wrinkled tissue paper cells

- Bone pain, thrombocytopenia, anemia, hepatosplenomegaly, etc.

79
Q

Transformation

A

Naked DNA from environment

80
Q

Transduction (specialized or general):

A

Via a bacteriophage

81
Q

Mutations in HOXA-13

A

Hand, foot, genital (HFG) syndrome

82
Q

Amanita

A

(in mushrooms) inhibits RNA pol II (which stops production of mRNA)

83
Q

CFTR Mutation

A

3 bp deletion, degraded post-translationally

84
Q

BH4 (tetrahydrobiopterin) cofactor needed for:

A

Synthesis of phenylalanine into tyrosine, DOPA, serotonin, and NO

85
Q

Amino acid that makes NO

A

Arginine

86
Q

Amino acid that makes NH3/Urea

A

Aspartate

87
Q

Recombination vs Phenotype Mixing vs Reassortment

A
  • Recombination: exchange of genes between 2 chromosomes, progeny will have traits from both parent viruses
  • Phenotypic mixing: coinfection, nucleocapsid proteins from one strain on another (w/ original genetic material), not passed to progeny
  • Reassortment: Viruses mixing segmented genomes
88
Q

TNF-a and Insulin

A

Cytokine that induces insulin resistance through phosphorylation of tyrosine kinases

89
Q

Deficiency of Arginase

A

Buildup of Arginine may be due to deficiency of arginase which is needed to make urea

90
Q

Arginine

A
  • Used alone to make NO

- Also in cycle for Urea

91
Q

NADH and Glucose in setting of Alcohol

A

NADH High

Glucose Low

92
Q

Fabry Disease

A
  • a-galactosidase A deficiency
  • Peripheral neuropathy, angiokeratomas on lower abdomen, and cardio/renal disease
  • ceramide trihexoside buildup
  • X-linked recessive
93
Q

Lead Poisoning

A

Colicky abdominal pain, Bluish line on gums (lead line), wrist or foot drop, microcytic anemia w/ basophilic stippling

94
Q

Repressor binds _______

A

the operator

95
Q

Kozak sequence mutation

A
  • Aw/ thalassemia intermedia (beta globin gene mutation)
  • Plays a role in initiation of translation
  • mutation that is upstream of the AUG start codon will interfere with mRNA binding to ribosomes
96
Q

_____ required to keep glycolysis (anaerobic metabolism) going

A

NAD+

replenished by conversion of pyruvate to lactate

97
Q

Segments of alpha helices with many hydrophobic amino acids

A

Usually transmembrane (membrane spanning) protein

98
Q

Orotic Acid in Urine

A

Either:

  • Urea Cycle problem: Ornithine Transcarbamylase (the carbamoyl phosphate gets converted to orotic acid)
  • Pyrimidine Pathway problem: megaloblastic anemia
99
Q

Kernicterus

A

Unconjudated (water insoluble) bilirubin cannot be excreted so it deposits in the brain
- aw/ crigler-najjar

100
Q

Organophosphates

A

Irreversible Cholinesterase Inhibitors

Tx: pralidoxime which reactivates cholinesterase and atropine

101
Q

16S rRNA in Prokaryotes

A

Part of the 30s ribosomal subunit

  • contains a sequence complementary to the Shine Delgarno Sequence on the mRNA
  • binding is necessary of initiation of protein translation
102
Q

PNMT

A

Induced by cortisol to convert NE to E

103
Q

Steps of Base Excision Repair

A

Glycosylase (recognizes abnormal base), Endonuclease (cleaves), Lyase (extracts), Polymerase (fills), Ligase (seals)

104
Q

Squamous metaplasia of specialiszed epithelia to a keratinizing epithelium

A

Vitamin A deficiency

eg. in someone w/ cystic fibrosis, may see squamous metaplasia of pancreatic exocrine ducts

105
Q

Primers to make complementary DNA

A

DNA pol only synthesizes in 5-3’ direction

and complementary DNA runs antiparallel

106
Q

McArdle Disease

A

Muscle pain and weakness w/ decreased exercise tolerance
Myophosphorylase deficiency (needed for glycogenolysis)
No hepatomegaly

107
Q

CAAT and TATA boxes

A

Promoters of transcription in eukaryotic cells (located upstream form transcription start size)

108
Q

Step in Cycle where Urea is Made

A

Arginine to Ornithine (releases Urea)

109
Q

7 alpha-helical transmembrane proteins

A

typically G protein coupled receptors (GPCR)

composed of hydrophobic amino acids

110
Q

Non-polar/Hydrophobic amino acids

A

Glycine, Alanine, Valine, Leucine, Isoleucine, Phenylalanine, Tryptophan, Methionine, and Proline

111
Q

Bloom Syndrome

A

Photosensitivity, short stature, erythema, and telangectasias

  • defect in DNA helicase gene RecQL3
  • predisposed to lymphoproliferative and GI malignancies
112
Q

RFLP Procedure

A

Identifies presence of disease causing mutations or identifies people based on normal variation in genome by restriction site cleaving
- SNPs are the more common cause of a RFLP

113
Q

Defective Proline Hydroxylation during Collagen Synthesis

A

Leads to failure of Triple Helix formation and stabilization by pro-alpha chains during collagen synthesis

114
Q

MCAD defciency

A

AR, inability to degrade medium length fatty acids by beta oxidation

  • hypoketotic hypoglycemia and neurologic and hepatic dysfunction after fasting or increased metabolic stress
  • Heterozygotes have decreased MCAD activity but phenotypically normal
115
Q

Short 30 amino acid alpha helical protein fragment w/ leucin residues at every 7th position

A

Most likely part of a leucine zipper dimerization

Allows for binding to DNA

116
Q

CPSII (Carbamoyl Phosphate synthase II)

A

Catalyzes initial step in pyrimidine synthesis

- located in cytosol

117
Q

MODY (Maturity Onset Diabetes of the Young)

A
  • Mutation in glucokinase that decreases its affinity for glucose
  • glucokinase is a glucose sensing device in pancreatic beta cells (needs a high concentration of glucose to be activated)
118
Q

Von Gierke Disease

A
  • Deficiency of Glucose 6 phosphatase (glycogen storage disease) –> impaired release of free glucose generated from glycogenolysis and gluconeogenesis
    Hepatomegaly and steatosis
    Fasting hypoglycemia and lactic acidosis
    Hyperuricemia and hyperlipidemia
119
Q

Cori Disease

A

Defciency of debranching enzyme (glycogen storage disease)

  • hypoglycemia, hepatomegaly, muscle weakness
  • lots of limit dextrins
120
Q

Pompe Disease

A
  • deficiency of lysosomal enzyme alpha 1,4 glucosidase (acid maltase) [glycogen storage disease]
  • Severe cardiomegaly
  • Glycogen accumulation in lysosomes
121
Q

Alkaptonuria

A

AR defect in homogentisic acid oxidase

  • can’t break down phenylalanine or tyrosine and build up homogentisic acid
  • urine turns black with standing, HGA deposits in cartilage, sclera, and dermia (black blue color)
  • longstanding disease –> develop ochronosis (darkening of tendons) and arthropathy; brown sclera
122
Q

Malonyl CoA Buildup

A

Malonyl-CoA inhibits the rate-limiting step in the beta oxidation of fatty acid
- resting muscle requires less energy (and thus less need for fatty acid breakdown) than active muscle

123
Q

Congenital Intolerance to Breast Milk

A
  • galactosemia, in which the body cannot convert galactose to glucose
    (resulting in an accumulation of Galactose 1-phosphate)
    Lactose (the disaccharide in milk) is composed of glucose + galactose
124
Q

Niacin (B3) Made From:

A

Tryptophan and requires B2 and B6

125
Q

Galactosyl B-1,4-glucose

A

Lactose

its breakdown to glucose and galactose by Lactase in low in lactase deficiency

126
Q

Conversion of Pyruvate to Lactate

A

Serves to re-oxidize NADH into NAD in the absence of oxygen in order to keep doing Glycolysis (since it cannot do Krebs without O2)

127
Q

Rb Hyperphosphorylation

A

Rb is inactivated so cell can transition from G1 to S phase and start proliferating

128
Q

Arsenic Inhibits:

A

Lipoid Acid which is needed as a cofactors for Pyruvate dehydrogenase (to enter TCA) and also alpha ketoglutarate dehydrogenase
- garlic breath, rice water stool, And vomiting

129
Q

Pyruvate shunted to alanine and lactate in:

A

Pyruvate dehydrogenase deficiency

  • can’t do TCA, Neuro defects, lactic acidosis, and high serum alanine
  • need to have a ketogenic diet (lysine, leucine)
130
Q

Euglycemia during fasting maintained by: 3 organs

A

Primarily liver, but also kidney and intestinal epithelium

131
Q

VLDL

A

TGs to periphery

132
Q

IDL

A

TGs to Liver

133
Q

LDL

A

Cholesterol to periphery

134
Q

HDL

A

Cholesterol to liver

135
Q

Type I hyperchylomicronemia Defect

A

ApoCII mutation or LPL deficiency

136
Q

Type IIA familial hypercholesterolemia

A

LDLR deficiency

137
Q

Type IV Hypertriglyceridemia

A

VLDL overproduction