McLeod syndrome


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.