Term
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Definition
| AR; deficiency of Aldolase B -> accumulation of Fructose-1-phosphate -> decreased available Phosphate -> inhibition of Glycogenolysis and Gluconeogenesis -> Hypoglycemia, Cirrhosis, Jaundice; tx: decrease Fructose/Sucrose ingestion |
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Term
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Definition
| defective Fructokinase -> asymtomatic, fructose in blood and urine (Fructose can't be converted to Fructose-1-phosphate) |
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Term
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Definition
| AR; deficiency of Galactose-1-phosphate Uridyltransferase -> accumulation of toxic substances (including Galactitol) -> Cataracts, Hepatosplenomegaly, Mental retardation; tx: avoid galactose |
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Term
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Definition
| -> Galactosemia and Galactosuria; toxic accumulation of Galactitol if galactose is present in diet (avoid galactose) |
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Term
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Definition
| age-dependent or hereditary (blacks, Asians) -> bloating, cramps, osmotic diarrhea |
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Term
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Definition
| Type I GSD; Glucose-6-Phosphatase deficiency -> no hepatic (or renal) gluconeogenesis -> Severe Fasting Hypoglycemia, Hyperlipidemia, Glycogen Accumulation in Liver and Kidneys -> Hepatomegally, Splenomegally |
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Term
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Definition
| Type II GSD; Lysosomal a-1,4-Glucosidase deficiency -> failure of Glycogen mobilization -> Cardiomegally, no hypoglycemia (liver can still undergo gluconeogenesis), early death; "Pompe's trashes the Pump" |
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Term
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Definition
| Type III GSD; a-1,6-Glucosidase (debranching enzyme) deficiency |
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Term
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Definition
| Type V GSD; Skeletal Muscle Glycogen Phosphorylase deficiency -> accumulation of glycogen in muscle -> cramps, myoglobinuria following strenuous exercise |
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