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18 Cards in this Set
- Front
- Back
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Lactose Intollerance
Autosomal Recessive? Congenital |
Lactase defi. due to lack of brush border enzymes.
Complete absence of lactose |
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Pyruvate dehydrogenase Deficiency (PDH)
Leigh's Disease? Acquired? |
Lactate build up, inability to provide glucose to brain, lactic acidocis, ketoacidosis X linked
Due to alcohol abuse |
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Lactic Acidosis?
PHD deficiency? Pyruvate Carboxylase Deficient? Imparid oxidation of NADH in ETC? |
Incr. Blood lactate DECR. BLOOD pH
Lactate/pyruvate normal but conc. in blood high N/a Increased NADH, Ratio of lactate/pyruvate increases |
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Ethanol metabolism Illiness
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NADH increase stopping B-ox. FA, Actyl CoA to ketone bodies==ketoacidosis, lactic acidosis, hypoglycemia, increased free radicals
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Glycogen Storage Diseases
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Gierkes, Pompe's, Cori's, McArdles
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Gierke's
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no converstion to glucose in liver deficient of glucose 6 phosphatase
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Pompe's
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No glycogen break down
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Heredidtary Fructose intollerance
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Def. in aldolase B, accumulate fructose 1 phospahte, inhibits glycogen phosphorylase and ATP synthase
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Essential Fructosuria
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Fructose in uring
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Cataracts
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increased sorbital and fructose levels in the eye
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Jaundice
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Build up of bilirubin due to excess heme breakdown or defect in glycosylation
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Tay Sach's
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Lysosomal Disease
Ganglioside build up, defect in hexosmindase A. Alpha subunit is deficient Neurodegeneration, developmental delay |
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gaucher's Disease
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Lysosomal Disease
Defect in B-glucocerebrosidase causing accumulation of glucocerebroside, Hexosmindase B Beta subunit is screwy Necrosis of Femur |
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Fabry
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Lysosomal disease
Defect in A-galactosidase A causing accumulation of ceramide trihexoside X linked Recessive |
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Lesch Nyhan Syndrome
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Causes excess Uric Acid production,
HGPRTAse deficiency, cannot convert hypoxanthine to IMP and GMP (X recessive) Retardation and self mutalation, gout, aggrsion |
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Phenylketonuria (PKU)
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Decreased phenylalanine or tetrahydrobiopterin. Tyrosine becomes essential and phenylketones are present in urine.
Retardation, fair skin eczima, growth retardation |
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Maple Syrup Urine Disease
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Blocked degredation of BCAA due to decrease a-ketoacid dehydrogenase=increase ketoacids in blood
CNS Defects, Retardation and death |
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Galactosemia
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Absense of galactose 1-phosphate Uridyltransferase
Cataracts and hepatosplenomegaly result |
