Hemolytic anemia due to pyruvate kinase deficiency: Characterization of the enzymatic activity from eight patients

J. A. Black, M. B. Rittenberg, R. H. Bigley, R. D. Koler

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

The authors have studied the red cell pyruvate kinase (PK) variants from 8 patients representing 5 families with pyruvate kinase deficiency-associated hemolytic anemia. The kinetic properties, electrophoretic mobilities, and immunological reactivity with anti-normal red cell pyruvate kinase were determined. The patients differ in the severity of their clinical condition and in the molecular properties of their red cell pyruvate kinase variants. The most seriously affected patient (PK Beaverton) has no electrophoretically demonstrable red cell isozymes. The activity present is due to the M2 isozyme, however red cell isozyme can be detected immunologically. PK Molalla and PK Lake Oswego are thermolabile variants with normal kinetic parameters. PK Molalla, in addition, has altered electrophoretic mobility. PK Multnomah and PK Milwaukie have decreased affinity for the substrate phosphoenolpyruvate, and PK Multnomah also has altered electrophoretic mobility. PK Coos Bay shows electrophoretic variation and a slightly decreased affinity for phosphoenolpyruvate consistent with an increased modulating effect of fructose-1,6-diphosphate.

Original languageEnglish (US)
Pages (from-to)300-310
Number of pages11
JournalAmerican Journal of Human Genetics
Volume31
Issue number3
StatePublished - Jan 1 1979

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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