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12 Cards in this Set
- Front
- Back
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Von Gierke's: Findings, deficient enzme
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Severe fasting hypoglycemia
Increased glycogen in liver Increased blood lactate Hepatomegaly Glucose-6-phosphatase |
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Pompe's disease: Findings, deficient enzyme
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Cardiomegaly and systemic findings leading to early death. (Heart, liver, muscle)
Lysosomal alpha-1,4-glucosidease (acid maltase) |
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Cori's disease: Findings, deficient enzyme
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Milder form of Von Gierke's with normal blood lactate levels.
Gluconeogenesis is intact Debranching enzyme alpha-1,6-glucosidase |
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McArdle's disease: Findings, deficient enzyme
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Increased glycogen in muscle, but cannot break it down.
Painful muscle cramps and myoglobinuria with strenous exercise. Skeletal muscle glycogen phosphorylase (myophosphorylase) |
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Fabry's disease: findings, deficient enzyme, accumulated substrate, inheritance
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Peripheral neuropathy of hands/feet
Angiokeratomas Cardiovascular/renal disease Alpha-galactosidase A Ceramide trihexoside XR |
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Gaucher's disease: findings, deficient enzyme, accumulated substrate, inheritance
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Hepatosplenomegaly
Aseptic necrosis of femur Bone crisis Gaucher's cells (macrophages that look like crumpled tissue paper) Glucocerebrosidase Glucocerebroside AR |
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Niemann-Pick disease: findings, deficient enzyme, accumulated substrate, inheritance
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Progressive neurodegeneration
Hepatosplenomegaly (useful to differentiate from Tay-Sach's) Cherry-red spot on macula (retinal pallor sparing the macula) Foam cells Sphingomyelinase Sphingomyelin AR |
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Tay-Sachs disease: findings, deficient enzyme, accumulated substrate, inheritance
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Progressive neurodegeneration
Developmental delay Cherry-red spot on macula Lysosomes with onion skin No hepatosplenomegaly (vs. Niemann-Pick) Hexosaminidase A GM2 ganglioside AR |
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Krabbe's disease: findings, deficient enzyme, accumulated substrate, inheritance
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Peripheral neuropathy
Developmental delay Optic atrophy Globoid cells Galactocerebrosidase Galactocerebroside AR |
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Metachromatic leukodystrophy: findings, deficient enzyme, accumulated substrate, inheritance
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Central and peripheral demyelination with ataxia and dementia
Arylsulfatase A Cerebroside sulfate AR |
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Hurler's syndrome: findings, deficient enzyme, accumulated substrate, inheritance
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Developmental delay
Gargoylism Airway obstruction Corneal clouding Hepatosplenomegaly Alpha-L-iduronidase Heparan sulfate, dermatan sulfate AR |
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Hunter's syndrome: findings, deficient enzyme, accumulated substrate, inheritance
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Mild Hurler's plus aggressive behavior
No corneal clouding Iduronate sulfatase Heparan sulfate, dermatan sulfate XR |
