adenylosuccinate lyase deficiency
Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
MONDO:0004736
inborn disorder of amino acid metabolism
is_a
MONDO:0019236
inborn disorder of purine metabolism
is_a
ADSL deficiency
exact
ADSLD
related
adenylosuccinase deficiency
exact
adenylosuccinate lyase deficiency
exact
inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder
exact
inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity
exact
rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity
exact
SPBC14F5.09c