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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.
Biomarker and diagnostic research for adult-onset citrullinemia type I has been reported in the published literature.
No clinical trials have been registered for adult-onset citrullinemia type I.
40 publications have been identified in PubMed for adult-onset citrullinemia type I. Research spans Case Report / Case Series (28%), Review / Meta-Analysis (25%), and Diagnostic / Biomarker (15%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 11 | 28% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about adult-onset citrullinemia type I
Research summaries
10 |
25% |
Testing and diagnosis research | 6 | 15% |
Disease patterns and progression | 6 | 15% |
Laboratory research | 4 | 10% |
Clinical study results | 2 | 5% |
New treatment approaches | 1 | 3% |
Tálas A (2026). [PMID: 42127219](https://pubmed.ncbi.nlm.nih.gov/42127219/). *Sci Transl Med*. [Basic Science / Preclinical]
Kido J (2026). [PMID: 41923674](https://pubmed.ncbi.nlm.nih.gov/41923674/). *Mol Genet Metab*. [Diagnostic / Biomarker]
Cen Z (2026). [PMID: 40683404](https://pubmed.ncbi.nlm.nih.gov/40683404/). *Clin Chim Acta*. [Epidemiology / Natural History]
Nomura D (2026). [PMID: 41371681](https://pubmed.ncbi.nlm.nih.gov/41371681/). *Rinsho Shinkeigaku*. [Case Report / Case Series]
Boeri S (2026). [PMID: 41761260](https://pubmed.ncbi.nlm.nih.gov/41761260/). *Ital J Pediatr*. [Case Report / Case Series]
Truong TH (2026). [PMID: 41809964](https://pubmed.ncbi.nlm.nih.gov/41809964/). *Eur J Case Rep Intern Med*. [Case Report / Case Series]
Zayed A (2026). [PMID: 41988439](https://pubmed.ncbi.nlm.nih.gov/41988439/). *Oxf Med Case Reports*. [Case Report / Case Series]
Posset R (2026). [PMID: 41851188](https://pubmed.ncbi.nlm.nih.gov/41851188/). *Sci Rep*. [Gene Therapy / Novel Therapeutics]
İşler-Soylu E (2026). [PMID: 42190069](https://pubmed.ncbi.nlm.nih.gov/42190069/). *J Pediatr Endocrinol Metab*. [Epidemiology / Natural History]
Eldredge JA (2026). [PMID: 42235881](https://pubmed.ncbi.nlm.nih.gov/42235881/). *J Pediatr*. [Case Report / Case Series]