[autosomal recessive deficiency of the erythrocytic isozyme of pyruvate kinase, the most common glycolytic enzyme defect in the Embden-Meyerhof pathway; deficient product (ATP) causes chronic hemolytic anemia of widely variable severity. ( CSP )]
UMLS (CSP) C0340968 Relation/PAR: ANEMIA HEMOLITIKOA
Congenital Metabolic Disorder
enzyme deficiency