Biochem Diseases
Transcript of Biochem Diseases
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Biochem Diseases
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•Diseases of the Ashkenazi Jews
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•Gauchers•Tay Sachs•Neiman Picks
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•Gaucher’s
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•Beta glucosidase•Hetaposplenomegally•Bone involvement w/ pancytopenia and path fx•Rare CNS involvement
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•Tay Sachs
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•Hexosaminidase A def.•GM2 ganglioside accumulation•mental retardation•blindness
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•Fabry’s
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• a-Galactosidase A def•Globotriaosylceramide; also
called ceramide trihexoside (CTH) accumulation•X-linked Recessive• catracts• renal failure
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•Niemann-Pick
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•Sphingomyelinase def.•Sphingomyelin LDL-derived cholesterol LDL-derived cholesterol accumulation•Cherry red macula•Zebra bodies
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•Krabbe's disease; globoid leukodystrophy
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•Galactocerebrosidase def.•Galactocerebroside accumulation•mental retardation•myelin deficiency•Globoid cells in BM
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•Sandhoff-Jatzkewitz disease
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•Hexosaminidase A and B def.•Globoside, GM2 ganglioside accumulation• same symptoms as Tay-Sachs•progresses more rapidly
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•GM1 gangliosidosis
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•GM1 ganglioside: b -galactosidase def.•GM1 ganglioside accumulation•mental retardation• skeletal abnormalities• hepatomegaly
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•Metachromatic leukodystrophy
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•Arylsulfatase A def.•Sulfatide accumulation•presents like MS in a 5-10 y.o.
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•Hunter’s
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•Lysosomal storage disease L Iduronidase •Dermatan Sulfate accumulation
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•Irreversible Glycolysis Enzymes
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–Hexokinase–PhosphoFructo Kinase = Rate Limiting Step–Pyruvate Kinase–Pyruvate Dehydrogenase
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•Irreversible Gluconeogenesis
Enzymes
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–PyruvateCarboxy Kinase–PEPCarboxyKinase–Fructose 1,6 BiPhosphatase–Glucose 6 Phosphatase–**muscle dose not take part in
Gluconeogenesis, only takes place in the liver, kidney & GI epithelium