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Adenylosuccinate lyase deficiency
rareAdenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
- Identifiers
- MONDO:0007068 OMIM:103050Orphanet:46
- Causal genes
- ADSL
- Also known as
- adenylosuccinase deficiency · ADSL deficiency · ADSLD · inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder · inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity
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