Biochem Diseases

Diseases of the Ashkenazi Jews

 Gauchers Tay Sachs Neiman Picks

 Gauchers

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

 Tay Sachs

 Hexosaminidase A def. GM2 ganglioside accumulation mental retardation blindness

 Fabrys

 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 TaySachs 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.

 Hunters

 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