Adenylosuccinate lyase deficiency
From BugSigDB
Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
- Aliases
- Adenylosuccinase deficiency
- adenylosuccinase deficiency
- adenylosuccinase lyase deficiency
- adenylosuccinate lyase deficiency
- adenylosuccinate lyase deficiency
- ADSL 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
- rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity
