Enzyme Deficiency

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 - 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