释义 |
Adenylate Kinase Deficiency 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. |