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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 |