deck 12 Flashcards
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
Pompe disease (type II)
cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance–> early death
Cori Disease (type III)
milder form of Von Gierke disease; normal blood lactate levels
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
Fabry disease
peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
accumulation of ceramide trihexoside
Gaucher disease
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of the femur, bone crises, Gaucher cells (lipid-laden macrophages)
accumulation of glucocerebroside
Niemann-Pick
progressive neurodegeneration, hepatosplenomegaly, foam cells (lipid-laden macrophages), cherry red spot on macula
accumulation of sphingomyelin
Tay-Sachs
progressive neurodegeneration, dvelopmental delay, cherry red spot on macula, lysosome with onion skin, NO hepatosplenomegaly
accumulation of GM2 ganglioside
Krabbe disease
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
accumulation of calactocereboside, psychosine
metachromic leukodystrophy
central and peripheral demyelination with ataxia and dementia
accumulation of cerebroside sulfate
Hurler syndrome
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
accumulation of heparan sulfate and dermatan sulfate
Hunter syndrome
Hurler+ aggressive behavior (- corneal clouding)
accumulation of heparan sulfate and dermatan sulfate
