Article
PGK deficiency.
British journal of haematology - 1 Jan 2007
Beutler Ernest
Abstract excerpt
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....
Topics
- Anemia, Hemolytic, Congenital Nonspherocytic
- Base Sequence
- Genetic Diseases, X-Linked
- Humans
- Molecular Sequence Data
- Mutation
- Phosphoglycerate Kinase
- Protein Conformation