ADENYLOSUCCINASE DEFICIENCY: WHAT IS ADENYLOSUCCINASE DEFICIENCY?
Definition: What is "Adenylosuccinase Deficiency"?
Adenylosuccinase deficiency is an autosomal recessive disease that affects purine synthesis. Among the main features of this disease are slow development of psychomotor skills as well as epileptic seizures & autism. It can be detected by means of testing abnormal purine metabolites present in body fluids. There is no cure available yet for the disorder.