A kindred with red cell pyruvate kinase deficiency.
A case is described of mild haemolytic anaemia in a female homozygous for pyruvate kinase deficiency, with 20% of normal enzyme activity and with the unexplained associations that she suffers from angina pectoris and that three of her children died in childhood from a muscular dystrophy presumed to be Werdnig-Hoffman disease.
D000293:Adolescent; D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics*; D000787:Angina Pectoris / Q000150:complications; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics; D011770:Pyruvate Kinase / Q000172:deficiency*; D013577:Syndrome
D011770:Pyruvate Kinase