PGK deficiency

British Journal of Haematology
Ernest Beutler


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.


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Related Concepts

Anemia, Hemolytic, Congenital Nonspherocytic
Phosphoglycerate KINASE
Protein Conformation
Genetic Diseases, X-Linked

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