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enzyme lacking for 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
Created by: UNECOM