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Flashcards in deck13 Deck (12):
1

Von Gierke Disease (type I)

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

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

2

Pompe disease (type II)

cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance--> early death

3

Cori Disease (type III)

milder form of Von Gierke disease; normal blood lactate levels

4

McArdle disease (type V)

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

5

Fabry disease

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

accumulation of ceramide trihexoside

6

Gaucher disease

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

accumulation of glucocerebroside

7

Niemann-Pick

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

accumulation of sphingomyelin

8

Tay-Sachs

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

accumulation of GM2 ganglioside

9

Krabbe disease

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

accumulation of calactocereboside, psychosine

10

metachromic leukodystrophy

central and peripheral demyelination with ataxia and dementia

accumulation of cerebroside sulfate

11

Hurler syndrome

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

accumulation of heparan sulfate and dermatan sulfate

12

Hunter syndrome

Hurler+ aggressive behavior (- corneal clouding)

accumulation of heparan sulfate and dermatan sulfate