Adenylate Kinase Deficiency

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Adenylate Kinase Deficiency

A rare autosomal recessive enzymopathy characterised by severe non-spherocytic haemolytic anaemia, and variable mental and psychomotor retardation and hepatosplenomegaly, which is caused by a mutation in a red cell adenylate kinase gene (AK1), which maps to 9q34.1.