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USMLE step 1 Rapid Review > metabolism disorders > Flashcards

metabolism disorders Flashcards

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USMLE® Step 1 flashcards
1
Q

Von Gierke disease (type I) enzyme

A

Glucose-6-phosphatase (AR)

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2
Q

Pompe Disease (type II) enzyme

A

Lysosmal acid α-1-4- glucosidase (acid maltase) with α-1-6- glucosidase activity (AR)

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3
Q

Cori disease (type III) enzyme

A 
Debranching enzyme (α-1,6-glucosidase and
4-α-D-glucanotransferase) (AR)
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4
Q

Andersen disease (type IV) enzyme

A

Branching enzyme (AR)

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5
Q

McArdle disease (type V) enzyme

A

Skeletal muscle glycogen phosphorylase (myophosphorylase) (AR)

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6
Q

Tay-Sachs disease

A

Hexosaminidase A (AR)

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7
Q

Fabray Disease enzyme

A

α-galactosidase A (XR)

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8
Q

Metachormatic leukodystrophy enzyme

A

Arylsulfatase A (AR)

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9
Q

Karbbe disease enzyme

A

Galactocerebrosidase (galactosylceramidase) (AR)

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10
Q

Gaucher disease enzyme

A

Glucocerebrosidase (β-glucosidase) (AR)

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11
Q

Neimann-Pick disease enzyme

A

Sphingomyelinase (AR)

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12
Q

Hurler Syndrome enzyme

A

α-L-iduronidase (AR)

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13
Q

Hunter Syndrome enzyme

A

Iduronate-2-sulfatase (XR)

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14
Q

Von Gierke Presentation

A 
Severe hypoglycemia
increased blood lactate levels
increased triglycerides 
Gout (increased uric acid)
Hepatomegaly/ renomegaly
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15
Q

Pompe Disease Presentation

A

Cardiomyopathy,
hypotonia,
exercise intolerance

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16
Q

Cori diseases presentation

A

Similar to von Gierke disease,
but milder symptoms and
normal blood lactate levels.
Can lead to cardiomyopathy.

17
Q

Andersen disease presentation

A

hepatosplenomegaly
failure to thrive in early infancy.

infantile cirrhosis,
muscular weakness,
hypotonia,
cardiomyopathy earlychildhood death

18
Q

McArdle Disease presentation

A

painful muscle cramps,
myoglobinuria (red urine) with strenuous exercise, and
arrhythmia from electrolyte abnormalities
Subsarcolemmal acid-Schiff-positive deposits (accumulation of glycogen)

19
Q

Tay Sachs Disease presentation

A 
Progressive neurodegeneration,
developmental delay, 
hyperreflexia,
“cherry-red” spot on macula (lipid accumulation in ganglion cell layer), 
lysosomes with onion skin
NO hepatosplenomegaly
20
Q

Niemann Pick disease presentation

A

Progressive neurodegeneration,
hepatosplenomegaly,
foam cells (lipid-laden macrophages)
“cherry-red” spot on macula

21
Q

Fabry disease presentation

A

Early: triad of episodic peripheral neuropathy, angiokeratomas B , hypohidrosis.

Late: progressive renal failure, cardiovascular disease.

22
Q

Metachromatic Leukodystrophy presentation

A

Central and peripheral demyelination with ataxia, dementia

23
Q

Krabbe Disease presentation

A 
Peripheral neuropathy, 
destruction of oligodendrocytes, 
developmental delay, 
optic atrophy,
 globoid cells.
24
Q

Gaucher Disease presentation

A 
Hepatosplenomegaly, 
pancytopenia,
osteoporosis, 
avascular necrosis of femur,
 bone crises,
(lipid-laden macrophages resembling crumpled tissue paper).
25
Q

Hurler syndrome presentation

A 
Developmental delay, 
skeletal abnormalities, 
airway obstruction,
hepatosplenomegaly,
corneal clouding,
26
Q

Hunter syndrome presentation

A 
Developmental delay, 
skeletal abnormalities, 
airway obstruction,
hepatosplenomegaly
aggressive behavior, 
no corneal clouding
27
Q

Galactokinase Deficiency (enzyme/pathway)

A

Galactose—(GALK)—> Galactose-1-P

Galactokinase(GALK)- AR

28
Q

Galactokinase Deficiency presentation

A

galactosemia
galactosuria
infantile cataracts.
May present as failure to track objects or to develop a social smile.

29
Q

classic galactosemia (enzyme/ pathway)

A

Galactose-1-P –(GALT)—> Glucose-1-P

galactose-1-phosphate uridyltransferase (GALT) -AR

30
Q

classic galctosemia presentation

A 
include failure to thrive, 
jaundice, 
hepatomegaly,
 infantile cataracts, 
intellectual disability.
hypoglycemia
predispose to E coli sepsis in neonates.
31
Q

Essential fructosuria (enzyme pathway)

A

Fructose –(FK)–> Fructose-1-P

Fructokinase (AR)

32
Q

essential fructosuria presentation

A

asymptomatic.
fructose in blood and urine
Hexokinase converts fructose to fructose-6-phosphate

33
Q

Hereditary Fructose Intolerance (enzyme/ pathway)

A

Fructose-1-P—(Ald B)–> Glyceraldehyde & Dihydroxyacetone phosphate

Aldolase B (AR)

34
Q

Hereditary Fructose Intolerance presentation

A 
Vomiting
Failure to thrive
Jaundice (can progress to cirrhosis)
Severe hypoglycemia
Hepatomegaly

USMLE step 1 Rapid Review (6 decks)

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