Home » Diseases Index (A) » ADENYLOSUCCINASE DEFICIENCY: WHAT IS ADENYLOSUCCINASE DEFICIENCY?

ADENYLOSUCCINASE DEFICIENCY: WHAT IS ADENYLOSUCCINASE DEFICIENCY?

Read about adenylosuccinase deficiency medical facts: what is the definition of adenylosuccinase deficiency, and related adenylosuccinase deficiency diseases.

Definition: What is "Adenylosuccinase Deficiency"?

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.

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