ornithine translocase deficiency
Findings
No curated finding names ornithine translocase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0009393), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
48 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.
- Abnormal pyramidal signHPOHP:0007256
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- HomocitrullinuriaHPOHP:0034464
- 2 of 2 reported patients
- HyperammonemiaHPOHP:0001987
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- HyperornithinemiaHPOHP:0012026
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Spastic paraplegiaHPOHP:0001258
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Abnormal circulating citrulline concentrationHPOHP:0011965
Show the remaining 36
- ConfusionHPOHP:0001289
- Frequent (30% to 79% of cases)
- Decreased liver functionHPOHP:0001410
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
- Episodic vomitingHPOHP:0002572
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- 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.
- SLC25A15HGNC:10985
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2020
- Definitive · Natera · Autosomal recessive · 2023
- 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: ornithine translocase deficiency
- Also called
- HHH syndromehyperornithinemia-hyperammonemia-homocitrullinemia syndromeornithine carrier deficiencyORNT1 deficiencytriple H syndrome