DISEASES WITH THEIR ENZYME DEFICIENCIES --------------- --------------- --------------- -------- Criggler-Najjar - UDP-glucuronyl transferase Von-Gierke’s - Glucose -6- phosphatase Pompe’s - Acid maltase( Acid α glucosidase) Mc Ardle’s - Muscle glycogen phosphorylase Tarui’s disease - Muscle phosphorylase Niemann-Pick’s - Sphingomyelinas e 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- Uroporphyrinoge n-1 synthase Maple syrup urine disease - Alpha ketoacid decarboxylase Hereditary fructose intolerance- Aldolase b Fructosuria - Fructokinase b Galctosemia - Galactose-1-pho sphate uridyl transferase admin/manager/editor laxman dhakal
Posted on: Sun, 14 Jul 2013 09:12:01 +0000
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