Glycogen and Lysosomal Storage Diseases Flashcards
4 glycogen storage diseases
Von Gierke, Pompe, Cori, McArdle
Severe fasting hypoglycemia, glycogen in liver, increased blood lactate, hepatomegaly
Von Gierke
Cardiomyopathy & systemic findings (liver, muscle) leading to early death
Pompe
Fasting hypoglycemia, glycogen in liver, hepatomegaly, NORMAL lactate levels
Cori
Increased glycogen in muscle, but can break it down, leading to painful muscle cramps with myoglobinuria (red urine) with strenuous exercise and arrhythmia from electrolyte abnormalities
McArdle
DE von gierke
Glucose-6-phophatase
DE pompe
lysosomal alpha-1,4-glycosidase (acid maltase)
DE cori
debranching enzyme (alpha-1,6-glucosidase)
DE mcardle
skeletal muscle glycogen phosphorylase (myophophorylase)
CP von gierke
Severe fasting hypoglycemia, glycogen in liver, increased blood lactate, hepatomegaly
CP pompe
Cardiomyopathy & systemic findings (liver, muscle) leading to early death
CP cori
Fasting hypoglycemia, glycogen in liver, hepatomegaly, NORMAL lactate levels
CP mcardle
Increased glycogen in muscle, but can break it down, leading to painful muscle cramps with myoglobinuria (red urine) with strenuous exercise and arrhythmia from electrolyte abnormalities
Peripheral neuropathy of hands/feet,
angiokeratomas, cardiovascular/renal
disease
Fabry
Hepatomegaly, pancytopenia, aseptic necrosis of femur, bone crises, Gaucher cells (lipid-laden macrophages resembling tissue paper).
Gaucher
Progressive neurodegeneration, hepatomegaly, cherry red spot on macula, foam cells (lipid-laden macrophages)
Niemann-Pick
Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, no hepatomegaly
Tay-Sachs
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Krabbe
Central and peripheral demyelination with ataxia, dementia
Metachromic leukodystrophy
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Hurler syndrome
developmental delay, gargoylism, airway obstruction, aggressive behavior, NO corneal clouding
Hunter
DE fabry
alpha-galactosidase A
DE gaucher
glucocerebrosidase (beta glucosidase)
DE neimann-pick
sphingomyelinase
