Catalog

Adenylosuccinate lyase deficiency

No MMS code

Link to WHO Definition

Adenylosuccinate lyase deficiency – http://id.who.int/icd/entity/1725611919

Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioural disorders similar to autism. All of these may be associated with growth retardation and amyotrophy.