A new variant of erythrocyte pyruvate kinase - PK "maebashi".
A new case of erythrocyte pyruvate kinase deficiency was described. - A 9 year-old male patient was hospitalized because of anaemia, jaundice and splenomegaly. Diagnosis was made primarily on the basis of the erythrocyte enzyme studies. Because the pyruvate kinase of this patient demonstrated certain different characteristics from the other variants described previously, it was tentatively designated PK "Maebashi".
D000227:Adenine Nucleotides / Q000097:blood; D002648:Child; D004912:Erythrocytes / Q000201:enzymology*; D006019:Glycolysis; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics; D010375:Pedigree; D011770:Pyruvate Kinase / Q000097:blood / Q000172:deficiency*; D013997:Time Factors
D000227:Adenine Nucleotides; D011770:Pyruvate Kinase