adult-onset citrullinemia type I
Findings
No curated finding names adult-onset citrullinemia type I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.
Definition from the Mondo Disease Ontology (MONDO:0016601), 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: adult-onset citrullinemia type I
- Also called
- adult-onset citrullinemia type 1late-onset citrullinemia type 1late-onset citrullinemia type I