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Biochem Flashcards

1
Q

Which Apolipoprotein mediates remnant uptake?

A

Apo E

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2
Q

Which Apolipoprotein activates LCAT for HDL maturation?

A

Apo-A1

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3
Q

Which Apolipoprotein is lipoprotein lipase cofactor? (Removes FFA from lipid particles)

A

Apo-C2

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4
Q

Which Apolipoprotein mediates chylomicron secretion from enterocytes?

A

Apo B-48

“Lipid from when you ate”

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5
Q

Which Apolipoprotein binds LDL/VLDL receptor?

A

Apo B-100

Allows the cholesterol to leave the liver

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6
Q

Which Apolipoprotein is deficient in A-beta lipoproteinemia?

A

Apo B-48

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7
Q

AR Lipoprotein lipase deficiency
Altered apolipoprotein C-II
Cause pancreatitis, hepatosplenomegaly, eruptive xanthomas

A

Familial dyslipidemia

Type 1 hypercholmicronemia

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8
Q

Familial dyslipidemia with increased blood levels of chylomicrons TG and cholesterol

A

Familial dyslipidemia

Type 1 hypercholmicronemia

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9
Q

Familial dyslipidemia with no risk for atherosclerosis

A

Familial dyslipidemia

Type 1 hypercholmicronemia

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10
Q

Familial dyslipidemia with increased blood levels of LDL and cholesterol

A

Type 2a familial hypercholesterolemia

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11
Q

Familial dyslipidemia with increased blood levels of VLDL and TG

A

Type 4 hypertriglyceridemia

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12
Q 
AD Absent or defective LDL receptors 
Accelerated atherosclerosis 
MI before age 20 
Tendon xanthomas 
Corneal arcus
A

Familial dyslipidemia

Type 2a familial hypercholesterolemia

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13
Q

AD Hepatic overproduction of VLDL
Hypertrigly >1000
Acute pancreatitis

A

Familial dyslipidemia

Type 4 hypertriglyceridemia

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14
Q

Acetoacetate and B-hydroxybutyrate are

A

Ketone bodies

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15
Q

Inherited defect in transport of long chain fatty acids into the mitochondria
Toxic accumulation causes weakness, hypotonia, hypoketotic hypoglycemia

A

Systemic primary carnitine deficiency

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16
Q

XR Deficient a-galactosidase A

Accumulated ceramide trihexoside

A

Fabry disease

Fairy wings make an X

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17
Q

AR Deficient glucocerebrosidase (B-glucosidase)

Accumulated glucocerebroside

A

Gaucher disease

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18
Q

Lipid laden macrophages (crumpled tissue paper)

A

Gaucher disease

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19
Q

AR Deficient sphingomyelinase

Accumulated spingomyelin

A

Niemann - Pick Disease

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20
Q

Foam cells

A

Niemann-Pick Disease

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21
Q

AR Deficient Hexosaminidase A

Accumulated GM2 ganglioside

A

Tay-Sachs Disease

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22
Q

AR Deficient Galactocerebrosidase

Accumulated Galctocerebroside & Psychosine

A

Krabbe Disease

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23
Q

AR Deficient Arylsulfatase A

Accumulated Cerebroside sulfate

A

Metachomatic leukodystrophy

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24
Q

AR Deficient a-L-iuronidase
Accumulated Heparan sulfate & Dermatan sulfate
Corneal clouding

A

Hurler Syndrome

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25
Q

XR
Deficient Iduronate sulfatase
Accumulated Heparin sulfate & Dermatan suflate
Milder with aggressive behavior and no corneal clouding

A

Hunter Syndrome

X marks the spot for hunters

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26
Q

Which enzyme in the Krebs Cycle produces GTP?

A

Succinyl CoA Synthetase

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27
Q

Fructose 2,6- Bisphosphate effects on Glycolysis and Gluconeogenesis

A

Promotes PFK-1 in glycolysis

Inhibits Fructose 1,6 bisphosphatase in Gluconeogensis

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28
Q 
Deficient Glucose 6-phophate 
Severe fasting hypoglycemia 
Increased glycogen in liver 
Increased blood lactate 
Increased triglycerides 
Increased uric acid 
Heaptosplenomegaly
A

Von Gierke

Glycogen Storage Disease

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29
Q

Tx frequent oral glucose/cornstarch

A

Von Gierke type 1

Glycogen Storage Disease

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30
Q

Deficient lysosomal a-1,4-glucosidase (acid maltase)

A

Pompe type 2

Glycogen Storage Disease

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31
Q

Cardiomegaly
Exercise intolerance
Early death with infantile form

A

Pompe type 2

Glycogen Storage Disease

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32
Q

Deficient debranching enzyme (a-1,6-glucosidase)
Mild hypoglycemia
Normal blood lactate levels

A

Cori disease type 3
Glycogen Storage Disease
(hepatomegaly, ketoacidosis and hypotonia)

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33
Q 
Deficient skeletal muscle glycogen phosphorylase (myophosphorylase) 
Painful muscle cramps and myoglobinuria 
Arrythmia 
Normal blood glucose levels 
Tx with Vit B6
A

McArdle type 5

Glycogen Storage Disease

34
Q

Cytosolic accumulation of glycogen with short outer chains (limit dextrans)

A

Cori disease type 3

Glycogen Storage Disease

35
Q

Enzymes requiring TLC For Nancy

A

Pyruvate Dehydrgonase
a-Ketoglutarate dehydrogenase
a-Ketoacid dehydrogenase

36
Q

Enzymes inhibited in lead toxicity

A

d-Aminolevulinate dehydratase
Ferrochelatase
Enzymes in heme synthesis

37
Q

Homocytinuria Tx

A

Decreased methionine

Increased Vit B6 and Pyridoxine

38
Q

Required for synthesis of ofrhodopsin

A

Vit A (Retinol)

39
Q

Required for synthesis of NAD/NADP

A

Vit B3 (Niacin)

40
Q

Required for synthesis of Niacin (Vit B3)

A

Tryptophan

41
Q

Required for synthesis of FAD FAMN

A

Riboflavin (Vit B2)

42
Q

Required for synthesis of TPP

A

Thiamine (VitB1)

43
Q

Hydroxylation of proline and lysine in synthesis of collage

A

Vit C (Ascorbic Acid)

44
Q

Deficiency seen in vegans

A

Vit B12 Cobalamin

45
Q

Cofactor in methylmalonyl CoA to succinyl CoA

Cofactor conversion of homocysteine to methionine

A

Vit B12 Cobalamin

46
Q

Required for synthesis of thymidylate
Required for conversion of homocysteine to methionine
Labs show increased homocysteine

A

Folic Acid Vit B9

47
Q

Cofactor for pyruvate carboxylase and proprionyl CoA carboxylase and acetyl CoA carboxylase

A

Biotin B7 deficiency

48
Q

Deficiency of HGPRT
Hyperuricemia
Part of purine salvage pathway

A

Lesch-Nyhan syndrome

49
Q

Mutation of sodium dependent transport channel of neutral amino acids
Relative deficiency in tryptophan

A

Hartnup Disease

50
Q

Deficiency of URP decarboxylase

A

Porphyria Cutanea Tarda

51
Q

Required for synthesis of transamination reaction cofactor for cystathionine synthase and heme

A

Vit B6 pyridoxine

52
Q

Required for synthesis of cysathionine, heme, niacin, histamine, serotonin, Epi, NE, Dopa GABA

A

Vit B6 pyridoxine

53
Q

Cofactor for metalloenzymes

A

Zinc deficiency

54
Q

Mutation in fibrillin gene

55
Q

Increased CTG repeats in myotonic protein kinase

A

Myotonic dystrophy

56
Q

Frameshift mutation

Absence of dystrophin synthesis

A

Duchenne Muscular Dystrophy

57
Q

Increased serum creatine kinase

A

Duchenne Muscular Dystrophy

58
Q

Pseudo hypertrophy of calves

A

Duchenne Muscular Dystrophy

59
Q

Gowers manuevere

A

Duchenne Muscular Dystrophy

60
Q

Reduced synthesis of dystrophin

A

Becker Muscular Dystrophy

61
Q

Pyruvate dehydrogenase complex deficiency Tx

A

Lysine and leucine

62
Q

Regenerates NADPH

A

Glucose 6 phosphate dehydrogenase

63
Q

Heinz bodies and bite cells

A

Glucose 6 phosphate dehydrogenase

64
Q

Maintains glutathione in its reduced form

A

Glucose 6 phosphate dehydrogenase

65
Q

Deficiency in fructokinase

A

Essential Fructosuria

“kind disease”

66
Q

Deficiency in fructose- 1,6-bisphosphate aldolase B

A

Fructose intolerance
Causes impaired glycolysis, glucogenolysis and gluconeogeneisis
“A bad disease”

67
Q

Deficiency of galactokinase

Galactitol builds up in eye

A

Galactokinase deficinecy

“kind disease”

68
Q

Deficiency of galactose-1-phosphate uridyl transferase

A

Classic Galactosemia

“GUT” enzyme

69
Q

Lactase deficiency can be induced by

A

Gastroenteritis

70
Q

Mutation in UMP synthase of pyrimidine synthesis

Normal ammonia

A

Orotic aciduria

71
Q

Mutation in ornithine transcarbamylase
Increased aortic acid
Increased ammonia

A

Ornithine transcarbamylase deficiency

72
Q

Mutation in phenylalanine hydroxylase

Decreased tetrahydrobiopterin

A

Phenylketonuria

73
Q

Mutation in enzyme converting phenylalanine into tyrosine

A

Phenylketonuria

74
Q

Tx PKU

A

Increased dietary tyrosine

Decreased dietary phenylalanine

75
Q

Deficiency in homogentisic acid oxidase

A

Alkaptonuria

76
Q

Defect in cystathionine synthase
Defect in homocysteine methyltransferase
Decreased affinity of cystathionine synthase for Vit B6

A

Homocystinuria

77
Q

Tx Homocystinuria

A

Decreased methionine

High dose Vit B6

78
Q

Subluxation of lens down and in
Thromboembolism
Coronary artery disease

A

Homocystinuria

79
Q

a-ketoacid dehydrogenase deficiency

A

Maple Syrup Urine Disease

80
Q

Defective isoleucine, leucine, valine metabolism

A

Maple Syrup Urine Disease

DIT/Boards (22 decks)

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