Adenylosuccinate Lyase Deficiency

About the Disease
Adenylosuccinase Deficiency, also known as adenylosuccinate lyase deficiency, is related to adenylosuccinase lyase deficiency and disorder of purine metabolism, 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, brain and skeletal muscle, and related phenotypes are intellectual disability and abnormal facial shape

Common Targets
ADSL

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