research paper: The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA

Phosphoglycerate kinase (PGK) deficiency is a rare X-linked disease that is characterised by mild to severe haemolytic anaemia, rhabdomyolysis, and variable defects in the central nervous system. In a white American family, two sons presented with haemolytic anaemia, seizures, and developmental dela...

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Bibliographic Details
Published in:British journal of haematology 2006-07, Vol.134 (2), p.233-237
Main Authors: Flanagan, Jonathan M, Rhodes, Melissa, Wilson, Meredith, Beutler, Ernest
Format: Article
Language:English
Online Access:Get full text
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Summary:Phosphoglycerate kinase (PGK) deficiency is a rare X-linked disease that is characterised by mild to severe haemolytic anaemia, rhabdomyolysis, and variable defects in the central nervous system. In a white American family, two sons presented with haemolytic anaemia, seizures, and developmental delay. The diagnosis of PGK deficiency was made based on the remarkably low (
ISSN:0007-1048
1365-2141
DOI:10.1111/j.1365-2141.2006.06143.x