argininosuccinic aciduria
Findings
No curated finding names argininosuccinic aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0008815), read 2026-09-29. CC BY 4.0.
Features
52 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 CSF argininosuccinic acid concentrationHPOHP:0034734
- 3 of 3 reported patients
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- HyperammonemiaHPOHP:0001987
- Very frequent (80% to 99% of cases)
- HyperglutaminemiaHPOHP:0003217
- Very frequent (80% to 99% of cases)
- HypoargininemiaHPOHP:0005961
- Very frequent (80% to 99% of cases)
- Argininosuccinic aciduriaHPOHP:0025630
- Frequent (30% to 79% of cases)
- Ataxia
Show the remaining 40
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Increased circulating argininosuccinic acidHPOHP:0032491
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- LethargyHPOHP:0001254
- Frequent (30% to 79% of cases)
- MonilethrixHPOHP:0032470
- Frequent (30% to 79% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Frequent (30% to 79% of cases)
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.
- ASLHGNC:746
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: argininosuccinic aciduria
- Also called
- argininosuccinase deficiencyargininosuccinatelyase deficiencyargininosuccinic acid lyase deficiencyASA deficiencyASL deficiency