aldolase A deficiency


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aldolase A deficiency

A rare autosomal recessive condition (OMIM:611881) characterised by nonspherocytic haemolytic anaemia and inherited metabolic myopathy.
 
Clinical findings
Exercise intolerance, rhabdomyolysis, jaundice.
 
Molecular pathology
Aldolase A deficiency is caused by a mutation in ALDOA.