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USMLE Step 1 Random Facts > Diseases/Enzyme Deficiencies + AA > Flashcards

Diseases/Enzyme Deficiencies + AA Flashcards

1
Q

von Gierke

A

glucose-6-phosphatase

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2
Q

Pompe

A

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

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3
Q

Cori

A

debranching enzyme (aplha-1,6-glucosidase)

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4
Q

McArdle

A

skeletal muscle glycogen phosphorylase

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5
Q

Fabry’s dz def/accum substrate

A

alpha-galactoside A

ceramide trihexoside

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6
Q

Gaucher’s dz def/accum substrate

A

glucoceribrosidase

glucocerebroside

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7
Q

Niemann-Pick dz def/accum substrate

A

sphingomyelinase

sphingomyelin

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8
Q

Tay-Sachs dz def/accum substrate

A

hexosaminidase A

GM2 ganglioside

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9
Q

Krabbe’s dz def/accum substrate

A

galactocerebrosidase

galactocerebroside

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10
Q

metachromatic leukodystrophy def/accum substrate

A

arylsulfatase A

cerebroside sulfate

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11
Q

Hurler’s dz def/accum substrate

A

alpha-L-iduronidase

heparan sulfate, dermatan sulfate

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12
Q

Hunter’s dz def/accum substrate

A

iduronate sulfatase

heparan sulfate, dermatan sulfate

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13
Q

essential fructosuria

A

fructokinase

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14
Q

fructose intolerance + tx

A

aldolase B - accum of F-1-P

tx = exclude fructose + sucrose

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15
Q

galactokinase deficiency

A

galactokinase - galactitol accum (from galactose –> galactitol by ALDOSE REDUCTASE)

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16
Q

classic galactosemia + tx

A

galactose-1-phosphate uridyltransferase - accum of galactitol and galactose-1-phosphate
tx = exclude galactose + lactose

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17
Q

tissues w/ ONLY aldose reductase activity

A

schwann cells
retina
kidneys

(glucose –> sorbitol) - causes osmotic damage

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18
Q

tissues w/ both aldose reductase and sorbitol DH activity

A

liver
lens
overies
seminal vesicles (most active)

sorbitol DH converts sorbitol to fructose

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19
Q

glucogenic essential AA

A

Met
Val
His

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20
Q

glucogenic/ketogenic AA

A 
Ile
Phe
Thr
Trp
Tyr (not essential)
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21
Q

Ketogenic AA

22
Q

Acidic AA

A

Asp
Glu

negatively charged

23
Q

basic AA

24
Q

positively charged basic AA

25
Q

NO charge basic AA

26
Q

MOST basic AA

27
Q

alkoptonuria

A

homogentisic acid oxidase - tyrosine –> fumarate

28
Q

albinism

A

tyrosinase (no melanin synth)

29
Q

3 causes of homocystinuria

A

1) cystathione synthase (tx = decrease Met, increase Cys; increase vit B12, folate)
2) decreased affinity for pyridoxal phosphate (tx = increase B6)
3) homocysteine methyltransferase (req B12)

30
Q

maple syrup urine disease

A

alpha-ketoacid DH (B1)

31
Q

hyperchylomicronemia

A

LPL or altered apoCII

32
Q

abetalipoproteinemia

A

MTP (microsomal TG transfer protein) gene mutation

deficiency in apoB48 + B100

33
Q

tryptophan derivatives

A

niacin (via B6)

serotonin (via BH4) –> melatonin

34
Q

histidine derivatives

A

histamine (via B6)

35
Q

glycine derivatives

A

porphyrin (via B6) –> heme

36
Q

Arg derivatives

A

**creatine
**urea
**NO
agmatine

37
Q

glutamate derivatives

A

GABA (via B6)

glutathione

38
Q

leucine derivatives

A

catabolized to acetoacetate and acetyl-CoA

39
Q

succinyl-CoA made of what 2 AA?

40
Q

cofactor req for Phe –> Tyr

A

THB (reduced via dihydropteridine reductase)

41
Q

cofactor req for Tyr –> Dopa

A

THB (reduced via dihydropteridine reductase)

42
Q

cofactor req for Dopa –> Dopamine

43
Q

cofactor req for Dopamine –> NE

44
Q

cofactor req for NE –> epinephrine

45
Q

cofactor + enzyme req for homocysteine –> Met

A

homocysteine methyltransferase (w/ B12)

46
Q

cofactor + enzyme req for homocysteine + _______ –> cystathionine (pre-Cys)

A 
cystathionine synthase (w/ B6)
\_\_\_\_\_\_ = serine
47
Q

Met can be broken down to?

A

succinyl-CoA + SAM

48
Q

homocystinuria findings

A 
increased homocysteine in urine
mental retardation
osteoporosis
Marfinoid habitus (w/ lens sublux downward, not upward)
atherosclerosis (from hypercoag state)
49
Q

what activates muscle glycogen phosphorylase kinase?

A

Ca2+/calmodulin

50
Q

glycogen BRANCHES have what bonds?

A

alpha(1,6)

51
Q

glycogen LINKAGES have what bonds?

A

alpha(1,4)

52
Q

only 2 X-linked recessive lysosomal storage diseases?

A

Fabry’s disease

Hunter’s synd

USMLE Step 1 Random Facts (35 decks)

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