Adenylosuccinase Deficiency (ADSLD)

Adenylosuccinase Deficiency, also known as adenylosuccinate lyase deficiency, is related to adenylosuccinase lyase deficiency and inherited metabolic disorder, and has symptoms including muscle spasticity, myoclonus and opisthotonus. An important gene associated with Adenylosuccinase Deficiency is ADSL (Adenylosuccinate Lyase). The drugs Allopurinol and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and seizure