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enzymes
enzyme lacking for disease
| enzyme | disease |
|---|---|
| NADPH Oxidase | chronic granulomatous |
| Phenylalanine Hydroxylase | phenylketonuria |
| Phosphate glycerate kinase | hemolytic anemia |
| uroporphyrinogen I synthase | acute intermittent porphyria |
| pyruvate dehydranase | lactic acidosis |
| 5 alpha reductase | BPH, pseudohermaphroditism |
| sphingomyelinase | Niemann pick disease |
| 17 hydroxylase deficiency | Congenital adrenal hyperplasia |
| alpha L Iduronidase | Hurlers |
| iduronosulfate | hunters |
| liver phosphorylase | her's disease |
| G 6 phosphate dehydrogenase | hemolytic anemia |
| muscle glycogen phosphorylase | Mcardle's syndrome |
| Hexosaminidase A | Tay-sach's disease |
| 21 hydroxylase | feamle pseudohermaphroditism |
| hypoxanthine guanine phsphoribosyltransferase | Lesch-nyhan syndrome/ gout |
| glucose 6 phoshatase | vongieke's |
| adenosine deaminase | SCID |
| cystathionine synthase | homocystinuria |
| alpha 14 Glucosidase | pompe |