Glycogen and Lysosomal Storage Diseases Flashcards
Severe fasting hypoglycemia, increased liver glycogen, elevated serum lactate, elevated triglycerides, elevated uric acid, hepatomegaly.
Von Gierkes Disease (Deficiency in Glucose 6 Phosphate leading to ineffective gluconeogenesis)
Treatment of Von Gierke’s Disease
Frequent oral glucose/cornstarch. Avoid Fructose and Galactose
Cardiomegaly, hypertrophic cardiomyopathy, hypotonia, exercise intolerance, lysosomal accumulation of glycogen.
Pompe Disease (Lysosomal 1,4 glucosidase and 1,6 glucosidase deficiency leading to inability of lysosomes to break down glycogen.
Fasting hypoglycemia, elevated liver glycogen, normal blood lactate, increased limit dextrin structures in cytosol.
Cori Disease (Deficiency in debranching enzymes leading to ineffective breakdown of glycogen however gluconeogenesis is intact)
Increased glycogen in muscle cells leading to painful muscle cramps. Myoglobinuria with strenuous exercise, electrolyte abnormalities possibly leading to arrythmias. Second wind phenomenon.
McArdles Disease (Deficiency of skeletal muscle glycogen phosphorylase, typically does not affect blood glucose)
Ashkenazi Jew, developmental delay, cherry red spot on macula, onion skinned lysosomes, no hepatosplenomegaly.
Tay-Sachs (Deficiency in Hexosaminidase A leads to accumulation of GM2 Gangliosides, Autosomal Recessive)
Episodic peripheral neuropathy, angiokeratomas, hypohidrosis. Progression to renal failure and cardiovascular disease
Fabry Disease (Deficient a-galactosidase A leads to ceramide trihexoside accumulation, AR)
Central and peripheral demyelination with ataxia and dementia
Metachromatic leukodystrophy (Deficiency in arylsulfatase A leads to cerebroside sulfate accumulation, AR)
Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells
Krabbe disease (Galactocerebrosidase A deficiency leading to galactocerebroside and psychocine accumulation, AR)
Hepatosplenomegaly, pancytopenia, osteoporosis, AVN of femur, bone crises, lipid-laden macrophages resembling crumple tissue paper.
Gaucher’s Disease (Glucocerebrosidase deficiency leading to glucocerebroside accumulation, AR)
Gaucher’s disease treatment
Recombinant glucocerebrosidase
Progressive neurodegeneration, hepatosplenomegaly, lipid laden macrophages, and cherry red spot on macula in an Ashkenazi jew
Niemann-Pick disease (Deficiency in sphingomyelinase leading to accumulation of sphingomyelin, AR)
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Hurler Syndrome (deficiency in a-l-iduronidase leading to accumulation of heparan sulfate and dermatan sulfate, AR)
Mild developmental delay, gargoylism, airway obstruction, hepatosplenomegaly, agressive behavior, corneas normal.
Hunter Syndrome (Iduronate sulfatase deficiency leading to accumulation of heparan sulfate and dermatan sulfate, XR)
