ornithine carbamoyltransferase deficiency
Findings
No curated finding names ornithine carbamoyltransferase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.
Definition from the Mondo Disease Ontology (MONDO:0010703), read 2026-09-29. CC BY 4.0.
- Onset and course
- Adult onset · Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
37 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.
- OroticaciduriaHPOHP:0003218
- 53 of 56 reported patients
- Frequent (30% to 79% of cases)
- Elevated circulating uracil concentrationHPOHP:0033139
- 51 of 54 reported patients
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- Hepatic failureHPOHP:0001399
- Very frequent (80% to 99% of cases)
- HyperammonemiaHPOHP:0001987
- Very frequent (80% to 99% of cases)
- HypoglycemiaHPOHP:0001943
- Very frequent (80% to 99% of cases)
Show the remaining 25
- Decreased circulating citrulline concentrationHPOHP:0003572
- Frequent (30% to 79% of cases)
- DrowsinessHPOHP:0002329
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
- EncephalopathyHPOHP:0001298
- Frequent (30% to 79% of cases)
- HypoargininemiaHPOHP:0005961
- Frequent (30% to 79% of cases)
- HypothermiaHPOHP:0002045
- 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.
- OTCHGNC:8512
- Definitive · ClinGen · X-linked · 2019
- Definitive · Laboratory for Molecular Medicine · X-linked · 2020
- Definitive · G2P · X-linked · 2015
- Definitive · Natera · X-linked recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
5 names
Resolves to: ornithine carbamoyltransferase deficiency
- Also called
- OCT deficiencyornithine carbamoyltransferase deficiency diseaseornithine transcarbamylase deficiencyOTC deficiencyOTCD