McLeod syndrome

(redirected from McLeod syndrome with chronic granulomatous disease)

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.