McLeod syndrome


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McLeod syndrome

An X-linked multisystem disorder (OMIM:300842) characterised by late-onset neuromuscular and haematopoietic defects, including acanthocytosis and haemolytic anaemia.  

Molecular pathology
Caused by defects of XK, which encodes a multipass membrane protein thought to play a role in sodium-dependent transport of neutral amino acids or oligopeptides.