Biochem Diseases

•Diseases of the Ashkenazi Jews

•Gauchers•Tay Sachs•Neiman Picks

•Gaucher’s

•Beta glucosidase•Hetaposplenomegally•Bone involvement w/ pancytopenia and path fx•Rare CNS involvement

•Tay Sachs

•Hexosaminidase A def.•GM2 ganglioside accumulation•mental retardation•blindness

•Fabry’s

• a-Galactosidase A def•Globotriaosylceramide; also

called ceramide trihexoside (CTH) accumulation•X-linked Recessive• catracts• renal failure

•Niemann-Pick

•Sphingomyelinase def.•Sphingomyelin LDL-derived cholesterol LDL-derived cholesterol accumulation•Cherry red macula•Zebra bodies

•Krabbe's disease; globoid leukodystrophy

•Galactocerebrosidase def.•Galactocerebroside accumulation•mental retardation•myelin deficiency•Globoid cells in BM

•Sandhoff-Jatzkewitz disease

•Hexosaminidase A and B def.•Globoside, GM2 ganglioside accumulation• same symptoms as Tay-Sachs•progresses more rapidly

•GM1 gangliosidosis

•GM1 ganglioside: b -galactosidase def.•GM1 ganglioside accumulation•mental retardation• skeletal abnormalities• hepatomegaly

•Metachromatic leukodystrophy

• •

•Arylsulfatase A def.•Sulfatide accumulation•presents like MS in a 5-10 y.o.

•Hunter’s

•Lysosomal storage disease L Iduronidase •Dermatan Sulfate accumulation

•Irreversible Glycolysis Enzymes

–Hexokinase–PhosphoFructo Kinase = Rate Limiting Step–Pyruvate Kinase–Pyruvate Dehydrogenase

•Irreversible Gluconeogenesis

Enzymes

–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

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