carbamoyl phosphate synthetase I deficiency disease
Findings
No curated finding names carbamoyl phosphate synthetase I deficiency disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
Definition from the Mondo Disease Ontology (MONDO:0009376), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
8 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.
- HyperammonemiaHPOHP:0001987
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- LethargyHPOHP:0001254
- 1 of 1 reported patient
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- Episodic ammonia intoxicationHPOHP:0001951
- Very frequent (80% to 99% of cases)
- HypoargininemiaHPOHP:0005961
- Very frequent (80% to 99% of cases)
- Hypotonia
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.
- CPS1HGNC:2323
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: carbamoyl phosphate synthetase I deficiency disease
- Also called
- carbamoyl phosphate synthetase deficiencycarbamoyl-phosphate synthase deficiency diseasecarbamoyl-phosphate synthetase deficiencycarbamoyl-phosphate synthetase I deficiencycarbamoylphosphate synthetase I deficiencyCPS1 deficiencyCPS1D