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...

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Bibliographic Details
Published inMedical journal of Australia Vol. 1; no. 26; p. 954
Main Authors Agar, N S, Gruca, M A, Harley, J D, Wallace, D
Format Journal Article
LanguageEnglish
Published Australia 25.06.1977
Subjects
Adolescent
Adult
Anemia, Hemolytic, Congenital Nonspherocytic - genetics
Angina Pectoris - complications
Child, Preschool
Erythrocytes - enzymology
Female
Heterozygote
Homozygote
Humans
Infant
Male
Muscular Atrophy - genetics
Pyruvate Kinase - deficiency
Syndrome
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Summary: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.
ISSN:0025-729X
DOI:10.5694/j.1326-5377.1977.tb131275.x