DISEASES WITH THEIR ENZYME DEFICIENCIES ----------------------------------------------------- Criggler-Najjar- UDP-glucuronyl transferase Von-Gierke’s - Glucose -6- phosphatase Pompe’s - Acid maltase( Acid αglucosidase) Mc Ardle’s - Muscle glycogen phosphorylase Tarui’s disease - Muscle phosphorylase Niemann-Pick’s - Sphingomyelinase Farber’s - Ceramidase Gaucher’s - β-glucosidase Krabbe’s - β-galactosidase Tay-Sach’s - Hexosaminidase-A Phenylketonuria- Phenylalanine hydroxylase Alkaptonuria - Homogentisate oxidase Albinism - Tyrosinase Fabry’s - α-galactosidase Lesch-Nyhan syndrome - HGPRT Sandhoff - Hexosaminidase-β Xeroderma pigmentosum - DNA exinuclease Sudden infant death syndrome - Medium chain acyl CoA dehydrogenase Maple syrup urine - Branched chain α- ketoacid dehydrogenase Acute Intermittent Porphyria- Uroporphyrinogen-1 synthase Maple syrup urine disease - Alpha ketoacid decarboxylase Hereditary fructose intolerance- Aldolase b Fructosuria - Fructokinase b Galctosemia - Galactose-1-phosphate uridyl transferase
Posted on: Mon, 15 Jul 2013 10:18:30 +0000
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