Erythrocyte Adenylate Kinase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive disorder caused by mutation of the AK1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment.

**Synonyms:** - Red Cell Adenylate Kinase Deficiency