deck13 Flashcards

1
Q

Von Gierke Disease (type I)

A

fasting hypoglycemia
increased glycogen in liver (–> hepatomegaly)
increased lactate, triglycerides and uric acid

TX: frequent oral glucose/corn starch, avoid fructose and galactose

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2
Q

Pompe disease (type II)

A

cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance–> early death

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3
Q

Cori Disease (type III)

A

milder form of Von Gierke disease; normal blood lactate levels

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4
Q

McArdle disease (type V)

A

increased glycogen in muscle but muscle can’t break it down –> painful muscle cramps, myoglobinuria w/strenous exercise, arrhythmias from electrolyte abnormalities

tx: vitamin B6

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5
Q

Fabry disease

A

peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

accumulation of ceramide trihexoside

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6
Q

Gaucher disease

A

hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of the femur, bone crises, Gaucher cells (lipid-laden macrophages)

accumulation of glucocerebroside

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7
Q

Niemann-Pick

A

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

accumulation of sphingomyelin

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8
Q

Tay-Sachs

A

progressive neurodegeneration, dvelopmental delay, cherry red spot on macula, lysosome with onion skin, NO hepatosplenomegaly

accumulation of GM2 ganglioside

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9
Q

Krabbe disease

A

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

accumulation of calactocereboside, psychosine

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10
Q

metachromic leukodystrophy

A

central and peripheral demyelination with ataxia and dementia

accumulation of cerebroside sulfate

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11
Q

Hurler syndrome

A

developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

accumulation of heparan sulfate and dermatan sulfate

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12
Q

Hunter syndrome

A

Hurler+ aggressive behavior (- corneal clouding)

accumulation of heparan sulfate and dermatan sulfate

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