Asd due to auts2 deficiency

An autosomal recessive condition caused by mutation(s) in the AMPD1 gene, encoding AMP deaminase 1. The condition is characterized by exercise-induced muscle pain and/or fatigue, which may be associated with rhabdomyolysis and/or increased concentrations of creatinine kinase.

Disease Alternative Name

myopathy due to myoadenylate deaminase deficiency

Trending Cases