aldolase A deficiency

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.