has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of disease has feature ADSL (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity Autism inborn disorder of amino acid metabolism adenylosuccinate lyase deficiency https://www.malacards.org/card/adenylosuccinase_deficiency https://www.malacards.org/card/adenylosuccinase_lyase_deficiency icd11.foundation:1725611919 ADSL deficiency DOID:0050762 adenylosuccinate lyase deficiency SCTID:15285008 rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity MONDO:0007068 ADSLD MESH:C538235 Orphanet:46 UMLS:C0268126 inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features. OMIM:103050 inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity ICD9:277.2 GARD:0000550 adenylosuccinase deficiency MEDGEN:78641 inborn errors of metabolism inborn disorder of purine metabolism