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Adenylosuccinate lyase deficiency

Disease definition

Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.


  • Synonym(s):
    • ADSL deficiency
    • Adenylosuccinase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Neonatal, Infancy
  • ICD-10: E79.8
  • OMIM: 103050
  • UMLS: C0268126
  • MeSH: C538235
  • GARD: 550
  • MedDRA: -
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