We identified the pyruvate kinase liver/red cell enzyme gene mutation of 8 children previously diagnosed with pyruvate kinase deficiency who were living in a remote town in the western United States. Six were found to be homozygous for the mutation 1529G-A (510 Arg-Gln). Two previously thought to have pyruvate kinase deficiency did not, because they were heterozygous.
- Pyruvate kinase
- Pyruvate kinase liver/red cell
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health