Documenti di Didattica
Documenti di Professioni
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Gauchers
Beta glucosidase Hetaposplenomegally Bone involvement w/ pancytopenia and path fx Rare CNS involvement
Tay Sachs
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
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
Hunters
Hexokinase PhosphoFructo Kinase = Rate Limiting Step Pyruvate Kinase Pyruvate Dehydrogenase
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