Pyruvate Kinase Deficiency of Red Cells [Supplementary Concept]

An autosomal recessive metabolic disorder caused by mutations in the PKLR gene (pyruvate kinase). It is the most common cause of hereditary nonspherocytic hemolytic anemia and is also the most frequent enzyme abnormality of GLYCOLYSIS. OMIM: 266200

Date introduced: November 5, 2012

MeSH Unique ID: C564858

Heading Mapped to:

• Anemia, Hemolytic, Congenital Nonspherocytic
• Pyruvate Kinase/deficiency
• Pyruvate Metabolism, Inborn Errors

Entry Terms:

• Pyruvate Kinase Deficiency of Erythrocyte
• PK Deficiency
• Pyruvate Kinase Deficiency