A red cell pyruvate kinase mutant with normal L-type PK in the liver.
The erythrocytic and liver pyruvate kinases (PK) from a patient with congenital nonspherocytic hemolytic anemia have been studied. In red blood cells, the residual activity, 28% of the normal control, presented normal kinetic properties, instability to heat and urea, and slow electrophoretic mobility. The L-type PK from the patient's liver was characterized by normal activity, kinetic properties, stability to heat and urea, and electrophoretic mobility. The fact that erythrocyte mutant PK may, as in previous reports, or may not be associated, as in the present observation, with molecular abnormalities of the liver PK provides support for the hypothesis of a gene rearrangement compatible with two different tissue-specific mRNAs.
D000328:Adult; D000743:Anemia, Hemolytic / Q000097:blood / Q000201:enzymology*; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D008099:Liver / Q000201:enzymology; D011770:Pyruvate Kinase / Q000097:blood / Q000235:genetics*; D014018:Tissue Distribution
D011770:Pyruvate Kinase