" /> Adenylosuccinate lyase deficiency - CISMeF





Preferred Label : Adenylosuccinate lyase deficiency;

ICD-11 definition : 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 behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy.;

ICD-11 synonym : ADSL deficiency; Adenylosuccinase deficiency; ADSL - [Adenylosuccinate lyase] deficiency;

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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 behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy.

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30/07/2025


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