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Biochem Diseases

This document summarizes several biochem diseases that affect Ashkenazi Jews, including Gaucher's disease, Tay Sachs disease, and Niemann-Pick disease. It provides details on the genetic defects, symptoms, and biochemical accumulations associated with each disease. The document also briefly discusses several other lysosomal storage diseases and key irreversible enzymes involved in glycolysis and gluconeogenesis.

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110 views25 pages

Biochem Diseases

This document summarizes several biochem diseases that affect Ashkenazi Jews, including Gaucher's disease, Tay Sachs disease, and Niemann-Pick disease. It provides details on the genetic defects, symptoms, and biochemical accumulations associated with each disease. The document also briefly discusses several other lysosomal storage diseases and key irreversible enzymes involved in glycolysis and gluconeogenesis.

Uploaded by

SSGFL1
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PPTX, PDF, TXT or read online on Scribd
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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

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