biochem diseases
Post on 15-May-2017
228 Views
Preview:
TRANSCRIPT
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
top related