acute neonatal citrullinemia type I
Findings
No curated finding names acute neonatal citrullinemia type I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.
Definition from the Mondo Disease Ontology (MONDO:0016600), read 2026-09-29. CC BY 4.0.
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.
- ASS1HGNC:758
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: acute neonatal citrullinemia type I
- Also called
- acute neonatal citrullinemia type 1classic citrullinemia type 1classic citrullinemia type I