Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

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

Diseases/Enzyme Deficiencies + AA Flashcards

1
Q

von Gierke

A

glucose-6-phosphatase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Pompe

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Cori

A

debranching enzyme (aplha-1,6-glucosidase)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

McArdle

A

skeletal muscle glycogen phosphorylase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Fabry’s dz def/accum substrate

A

alpha-galactoside A

ceramide trihexoside

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Gaucher’s dz def/accum substrate

A

glucoceribrosidase

glucocerebroside

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Niemann-Pick dz def/accum substrate

A

sphingomyelinase

sphingomyelin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Tay-Sachs dz def/accum substrate

A

hexosaminidase A

GM2 ganglioside

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Krabbe’s dz def/accum substrate

A

galactocerebrosidase

galactocerebroside

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

metachromatic leukodystrophy def/accum substrate

A

arylsulfatase A

cerebroside sulfate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Hurler’s dz def/accum substrate

A

alpha-L-iduronidase

heparan sulfate, dermatan sulfate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Hunter’s dz def/accum substrate

A

iduronate sulfatase

heparan sulfate, dermatan sulfate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

essential fructosuria

A

fructokinase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

fructose intolerance + tx

A

aldolase B - accum of F-1-P

tx = exclude fructose + sucrose

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

galactokinase deficiency

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

classic galactosemia + tx

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

tissues w/ ONLY aldose reductase activity

A

schwann cells
retina
kidneys

(glucose –> sorbitol) - causes osmotic damage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

glucogenic essential AA

A

Met
Val
His

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

glucogenic/ketogenic AA

A 
Ile
Phe
Thr
Trp
Tyr (not essential)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Ketogenic AA

22
Q

Acidic AA

A

Asp
Glu

negatively charged

23
Q

basic AA

24
Q

positively charged basic AA

25
NO charge basic AA
His
26
MOST basic AA
Arg
27
alkoptonuria
homogentisic acid oxidase - tyrosine --> fumarate
28
albinism
tyrosinase (no melanin synth)
29
3 causes of homocystinuria
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
maple syrup urine disease
alpha-ketoacid DH (B1)
31
hyperchylomicronemia
LPL or altered apoCII
32
abetalipoproteinemia
MTP (microsomal TG transfer protein) gene mutation | deficiency in apoB48 + B100
33
tryptophan derivatives
niacin (via B6) | serotonin (via BH4) --> melatonin
34
histidine derivatives
histamine (via B6)
35
glycine derivatives
porphyrin (via B6) --> heme
36
Arg derivatives
**creatine **urea **NO agmatine
37
glutamate derivatives
GABA (via B6) | glutathione
38
leucine derivatives
catabolized to acetoacetate and acetyl-CoA
39
succinyl-CoA made of what 2 AA?
Val + Ile
40
cofactor req for Phe --> Tyr
THB (reduced via dihydropteridine reductase)
41
cofactor req for Tyr --> Dopa
THB (reduced via dihydropteridine reductase)
42
cofactor req for Dopa --> Dopamine
vit B6
43
cofactor req for Dopamine --> NE
vit C
44
cofactor req for NE --> epinephrine
SAM
45
cofactor + enzyme req for homocysteine --> Met
homocysteine methyltransferase (w/ B12)
46
cofactor + enzyme req for homocysteine + _______ --> cystathionine (pre-Cys)
``` cystathionine synthase (w/ B6) ______ = serine ```
47
Met can be broken down to?
succinyl-CoA + SAM
48
homocystinuria findings
``` increased homocysteine in urine mental retardation osteoporosis Marfinoid habitus (w/ lens sublux downward, not upward) atherosclerosis (from hypercoag state) ```
49
what activates muscle glycogen phosphorylase kinase?
Ca2+/calmodulin
50
glycogen BRANCHES have what bonds?
alpha(1,6)
51
glycogen LINKAGES have what bonds?
alpha(1,4)
52
only 2 X-linked recessive lysosomal storage diseases?
Fabry's disease | Hunter's synd

USMLE Step 1 Random Facts (35 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions