PGK deficiency.
Phosphoglycerate kinase (PGK) deficiency is one of the relatively uncommon causes of hereditary non-spherocytic haemolytic anaemia (HNSHA). The gene encoding the erythrocyte enzyme PGK1, is X-linked. Mutations of this gene may cause chronic haemolysis with or without mental retardation and they may cause myopathies, often with episodes of myoglobinuria, or a combination of these clinical manifestations. Twenty-six families have been described and in 20 of these the mutations are known. The reason for different clinical manifestations of mutations of the same gene remains unknown.
Beutler
Ernest
E
Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA. beutler@scripps.edu
D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000378:metabolism; D001483:Base Sequence; D040181:Genetic Diseases, X-Linked; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010735:Phosphoglycerate Kinase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D011487:Protein Conformation
D010735:Phosphoglycerate Kinase