/adenylosuccinate lyase deficiency

adenylosuccinate lyase deficiency

Rare Disease

MONDO:0007068

Also Known As

ADSL deficiencyadenylosuccinase deficiencyadenylosuccinate lyase deficiencyinborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorderinborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activityrare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activityADSLDAdsl deficiencyadenylosuccinase lyase deficiency

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.