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Details Title: Carb Metabolic Disorders Description: USMLE Step 1 prep Total Flash Cards: 9 Created: 06/07/2004 16:49:50	To study from this set of flash cards, or to create your own your own study flash cards, register HERE. If you are already a registered user, CLICK HERE.
Cards Term Fructose Intolerance 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 Term Essential Fructosuria Definition defective Fructokinase -> asymtomatic, fructose in blood and urine (Fructose can't be converted to Fructose-1-phosphate) Term Galactosemia Definition AR; deficiency of Galactose-1-phosphate Uridyltransferase -> accumulation of toxic substances (including Galactitol) -> Cataracts, Hepatosplenomegaly, Mental retardation; tx: avoid galactose Term Galactokinase deficiency Definition -> Galactosemia and Galactosuria; toxic accumulation of Galactitol if galactose is present in diet (avoid galactose) Term Lactase Deficiency Definition age-dependent or hereditary (blacks, Asians) -> bloating, cramps, osmotic diarrhea Term Von Gierke's Disease 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 Term Pompe's Disease 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" Term Cori's Definition Type III GSD; a-1,6-Glucosidase (debranching enzyme) deficiency Term McArdle's Disease Definition Type V GSD; Skeletal Muscle Glycogen Phosphorylase deficiency -> accumulation of glycogen in muscle -> cramps, myoglobinuria following strenuous exercise