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High Yield Comlex > High Yield Biochem > Flashcards

High Yield Biochem Flashcards

1
Q

Lack of UV specific endonuclease causing dry skin and malignant melanoma

A

Xeroderma Pigmentosum

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2
Q

Lack of Aldolase B causing hypoglycemia, jaundice and cirrhosis

A

Fructose intolerance

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3
Q

Lack of fructokinase causing fructosemia and fructosuria

A

essential fructosuria

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4
Q

Lack of galactose-1-phosphate uridyltransferase causing cataracts, hepatosplenomegaly and mental retardation

A

Galactosemia

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5
Q

Causes lactic acidosis and neurologic deficits in alcoholics

A

pyruvate dehydrogenase deficiency

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6
Q

Hemolytic anemia in patients of Mediteranean descent after eating fava beans or taking certain medications like antimalarials

A

Glucose 6 phosphate dehydrogenase deficiency

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7
Q

Hepatocellular accumulation of glycogen caused by a deficiency in glucose-6-phosphatase associated with severe fasting hypoglycemia, lactic acidosis, hyperlipidemia and impaired fructose metabolism

A

Von Gierke disease (type 1 glycogen storage disease)

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8
Q

Accumulation of glycogen in the liver, heart and muscle caused by a deficiency of lysosomal alpha 1,4 glucosidase resulting in cardiomegaly

A

Pompe Disease (type II glycogen storage)

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9
Q

enzyme deficient in Von Gierke disease

A

Glucose-6-phosphatase

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10
Q

enzyme deficient in Pompe disease

A

alpha 1,4 glucosidase

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11
Q

accumulation of glycogen in the liver and heart due to deficiency of debranching enzyme (alpha 1,6 glucosidase) leading to muscular hypotonia

A

Cori disease (type III glycogen storage)

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12
Q

Accumulation of glycogen in skeletal muscle due to a deficiency in glycogen phosphorylase leading to myalgia and myoglobinuria with exercise

A

McArdle disease (type IV glycogen disease)

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13
Q

enzyme deficiency in Cori disease

A

debranching enzyme (alpha 1,6 glucosidase)

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14
Q

enzyme deficient in McArdle disease

A

glycogen phosphorylase

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15
Q

Maple Syrup Urine disease is a buildup of branched chain amino acids (Ile, Val, Leu) because of lack of what enzyme?

A

alpha ketoacid dehydrogenase

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16
Q

Symptoms of PKU

A

mental retardation, hypopigmentation, mousy odor, eczema

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17
Q

Lack of homogenistic acid oxidase leading to darkening of the urine and connective tissues

A

Alkaptonuria

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18
Q

enzyme deficient in Alkaptonuria

A

homogenistic acid oxidase

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19
Q

lack of HGPRT causing an overproduction of uric acid leading to neurologic defects, behavioral abnormalities including self mutilation

A

Lesch Nyhan syndrome

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20
Q

abnormal FMR1 gene with CGG repeats

A

Fragile X

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21
Q

XLR deficiency of alpha-galactosidase A leading to a buildup of ceramide trihxoside which causes pain in the extremities, ocular abnormalities, angiokeratomas, cardiovascular disease and renal failure

A

Fabry disease

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22
Q

AR deficiency of galactosylceramide beta galactosidase leading to cerebral accumulation of galactocerebroside which causes neurologic degeneration

A

Krabbe Disease (globoid cell leukodystrophy)

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23
Q

enzyme deficient in Lesch Nyhan

A

HGPRT (hypoxanthine guanine phosphoryltransferase)

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24
Q

enxyme deficient in Fabry disease

A

alpha galactosidase A

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25
Q

enzyme deficient in Krabbe disease

A

galactosylceramide beta galactosidase

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26
Q

AR deficiency of Beta glucocerebrosidase leading to accumulation of glucocerebroside in brain, bone marrow, spleen, liver causing hepatosplenomegaly, aseptic necrosis of femur and neuro dysfxn

A

Gaucher disease

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27
Q

AR deficiency of sphingomyelinase on chromosome 11 leading to a buildup of sphingomyelin and cholesterol in liver, spleen, lymphatic system resulting in cortical atrophy, cherry red macula and hepatosplenomegaly

A

Neimann-Pick

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28
Q

AR deficiency of hexosaminidase-A on chromosome 18 leading to accumulation of GM2 ganglioside in lysosomes leading to neurologic degeneration, developmental delay, cherry red macula

A

Tay-Sachs disease

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29
Q

enzyme deficient in Gaucher disease

A

Beta-glucocerebrosidase

30
Q

enzyme deficient in Neimann Pick

A

sphingomyelinase

31
Q

enzyme deficient in Tay Sachs

A

Hexosaminidase A

32
Q

AR deficiency of arylsulfatase A leading to accumulation of cerebroside sulfate and dysfunction/demyelination of central and peripheral NS causing ataxia and dementia

A

Metachromatic leukodystrophy

33
Q

XLR deficiency of iduronate sulfatase leading to accumulation of heparan and derm sulfate leading to MR, coarse facial features, short stature

A

Hunter’s syndrome

34
Q

AR deficiency of alpha-l-iduronidase leading to buildup of partially degraded glycosaminoglycans in lysosomes resulting in gargoyle-like facies, corneal clouding, hepatosplenomegaly, skeletal abnormalities

A

Hurler Syndrome

35
Q

characterized by defective trafficking of enzymes into lysosomes leading to developmental delay and coarse features

A

I cell disease

36
Q

enzyme deficient in Metachromatic leukodystrophy

A

Arylsulfatase A

37
Q

enzyme deficient in Hurler’s syndrome

A

alpha-l-iduronidase

38
Q

enzyme deficient in Hunters syndrome

A

iduronate sulfatase

39
Q

disease of cells containing “crinkled paper” cytoplasm and glycolipid-laden macrophages

A

Gaucher disease

40
Q

major enzymatic regulator of glysolysis

A

Phosphofructokinase

41
Q

major enzymatic regulator of glycogenolysis

A

glycogen phosphorylase

42
Q

major enzymatic regulator of pentose phosphate pathway

A

G6PD

43
Q

What turns on PFK-1 and thus glycolysis?

A

AMP, fructose 2,6 bisphosphate

Glycolysis is inhibited by ATP, citrate and cAMP

44
Q

Glycogen synthase is activated by what molecule?

A

Glucose 6 phosphate

45
Q

glucose 6 phosphate inhibits what enzyme?

A

hexokinase

46
Q

4 major enzymes that function in gluconeogenesis

A

Pyruvate carboxylase, PEP carboxylase, Fructose 1,6 bisphosphatase and Glucose-6-phosphatase (Pathway Produces Fresh Glucose)

47
Q

4 cellular processes supplied by the pentose phosphate pathway

A

Fatty acid/steroid biosynthesis, Gluthianone reduction of H2O2, Cytochrome P450 system, Respiratory burst

48
Q

2 amino acids playing a key role in transport of nitrogen from the liver periphery

A

alanine and glutamine

49
Q

toxin that uncouples oxidative phosphorylation by increasing the permeability of the inner mitochondrial membrane

A

2,4 Dinitrophenol

50
Q

binds to LDL receptor mediating VLDL secretion

A

Apolipoprotein B100

51
Q

mediates chylomicron remnant uptake

A

Apolipoprotein E

52
Q

cofactor for lipoprotein lipase

A

Apolipoprotein CII

53
Q

activates lecthithin cholesterol acyltransferase

A

Apo AI

54
Q

Amino acids that are exclusively ketogenic

A

Leucine and Lysine

55
Q

AA used to carry ammonium from the muscles to the liver

A

Alanine

56
Q

second messengers activated by the Gq receptor

A

IP3 and DAG

57
Q

second messenger activated by the Gs receptor

A

cAMP

58
Q

enzyme induced by Gq –> IP3, DAG

A

protein kinase C

59
Q

enzyme induced by Gs –> cAMP

A

protein kinase A

60
Q

fat soluble vitamins are absorbed where?

A

ileum

61
Q

this vitamin can remain in the body with stores lasting 3-5 years

A

vit B12

62
Q

vitamin that composes NAD and NADP

A

vit B3 (niacin)

63
Q

component of CoA and fatty acid synthase

A

vit B5 (panthothenate)

64
Q

toxicity of this vitamin causes nausea, stupor and hypercalcemia

A

vit D

65
Q

toxicity of this vitamin causes skin changes, arthralgias, premature epiphyseal closure, CNS edema

A

Vit A (retinol)

66
Q

Vitamin B1 deficiency

A

Wernicke Korsakoff, beri beri (thiamine def)

67
Q

Vit B3 deficiency

A

Pellagra (dermatitis, dementia, diarrhea) (niacin)

68
Q

deficiency is caused by long term raw egg ingestion

A

Biotin (the avidin in egg whites binds it)

69
Q

deficiency of Vit A

A

dry skin, dry eyes and night blindness

70
Q

deficiency of vitamin E sx

A

hemolysis from RBC fragility and ataxia

71
Q

deficiency of vit B6 (can be caused by isoniazid use)

A

EEG changes, peripheral neuropathy (pyridoxine)

72
Q

deficiency of this element characterized by acrodermatitis and changes in sense of taste and smell

A

Zinc

High Yield Comlex (9 decks)

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