MeSH Browser

MeSH Supplementary: Pyruvate Kinase Deficiency of Red Cells
Unique ID: C564858
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C564858
Entry Term(s): PK Deficiency; Pyruvate Kinase Deficiency; Pyruvate Kinase Deficiency of Erythrocyte
Heading Mapped to: *Anemia, Hemolytic, Congenital Nonspherocytic; Pyruvate Kinase / deficiency; *Pyruvate Metabolism, Inborn Errors
Frequency: 110
Note: 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 of Entry: 2012/11/05
Revision Date: 2015/09/27

Pyruvate Kinase Deficiency of Red Cells MeSH Supplementary Concept Data 2024