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11 Cards in this Set
- Front
- Back
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Von Gierke's disease
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glucose-6-phosphatase deficiency
severe fasting hypoglycemia with increased glycogen in liver |
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Pompe's disease
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lysosomal a-1,4 glucosidase deficiency
cardiomegaly |
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Cori's disease
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debranching enzyme deficiency
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McArdle's disease
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skeletal muscle glycogen phosphorylase deficiency
painful muscle cramps and myoglobinuria with strenuous exercise |
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Fabry's disease
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a-galactosidase A deficiency with ceremide trihexoside accumulation
peripheral neuropathy ang angiokeratomas |
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Gaucher's disease
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B-glucocerebrosidase deficiency with glucocerebroside accumulation
hepatosplenomegaly with macrophages that have crumpled tissue paper |
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Niemann-Pick disease
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sphingomyelinase deficiency
neurodegeneration, hepatosplenomegaly, cherry-red macula |
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Tay-Sachs disease
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Hexosaminase A defieicny with GM2 ganglioside accumulation
neurodegeneration with cherry-red macula |
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Krabbe's disease
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Galactocerebrosidase deficiency
peripheral neuropathy, developmental delay, optic atrophy, globoid cells |
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Metachromatic leukodystrophy
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arylsulfatase A deficiency with cerebroside sulfate accumulation
central and peripheral demyelination with ataxia |
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differentiate Hurler's and Hunter's
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Hurler - developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Hunter's - Add aggressive behavior but no corneal clouding, x-linked recessive |
