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A KINDRED WITH RED CELL PYRUVATE KINASE DEFICIENCY
Author(s) -
Agar N. S.,
Gruca Margaret A.,
Harley J. D.,
Wallace D.
Publication year - 1977
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1977.tb131275.x
Subject(s) - pyruvate kinase deficiency , pyruvate kinase , medicine , red cell , muscular dystrophy , disease , endocrinology , glycolysis , metabolism
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.