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4 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Glycogen storage disease |
Von Gierke (type I) glu-6-phosphatase Pompe (type II) alpha1-4-glucosidase Cori (type III) alpha1-6-glucosidase (debranching enzyme) McArdle (type V) myophosphorylase
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Very Poor Carbohydrate Metabolism Periodic acid-Schiff stain |
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Sphingolipidoses |
Tay-Sachs: hexosaminidase A Fabry: alpha-galactosidase A Metachromatic leukodystrophy: arysulfatase A Krabbe: galactocerebrosidase Gaucher: lipid-laden macrophages. Glucocerebrosidase Niemann-Pick: sphingomyelinase |
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Mucopolysaccharisoses |
Hurler syndrome: alpha-L-iduronidase. Corneal clouding.
Hunter syndrome: iduronate sulfatase. Mild hurler, no corneal clouding |
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Fatty acid metabolim disorders |
Carnitine deficiency
Medium-chain acyl-coA dehydrogenase deficiency
Both provoke hypoketotic hypoglycemia |
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