adenylosuccinate lyase deficiency
Findings
No curated finding names adenylosuccinate lyase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0007068), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated urinary succinyladenosine levelHPOHP:6000113
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Cerebral atrophyHPOHP:0002059
- 6 of 7 reported patients
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Absent speechHPOHP:0001344
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Brachycephaly
Show the remaining 14
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- 5 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Prominent metopic ridgeHPOHP:0005487
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ADSLHGNC:291
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: adenylosuccinate lyase deficiency
- Also called
- adenylosuccinase deficiencyADSL 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) activity