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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.
Biomarker and diagnostic research for acute neonatal citrullinemia type I has been reported in the published literature.
No clinical trials have been registered for acute neonatal citrullinemia type I.
27 publications have been identified in PubMed for acute neonatal citrullinemia type I. Research spans Review / Meta-Analysis (30%), Case Report / Case Series (26%), and Epidemiology / Natural History (15%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 8 | 30% |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 7:44 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about acute neonatal citrullinemia type I
Patient case studies
7 |
26% |
Disease patterns and progression | 4 | 15% |
Testing and diagnosis research | 3 | 11% |
Laboratory research | 3 | 11% |
Clinical study results | 1 | 4% |
New treatment approaches | 1 | 4% |
Zayed A (2026). [PMID: 41988439](https://pubmed.ncbi.nlm.nih.gov/41988439/). *Oxf Med Case Reports*. [Case Report / Case Series]
Boeri S (2026). [PMID: 41761260](https://pubmed.ncbi.nlm.nih.gov/41761260/). *Ital J Pediatr*. [Case Report / Case Series]
Tálas A (2026). [PMID: 42127219](https://pubmed.ncbi.nlm.nih.gov/42127219/). *Sci Transl Med*. [Basic Science / Preclinical]
Nomura D (2026). [PMID: 41371681](https://pubmed.ncbi.nlm.nih.gov/41371681/). *Rinsho Shinkeigaku*. [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]
Eldredge JA (2026). [PMID: 42235881](https://pubmed.ncbi.nlm.nih.gov/42235881/). *J Pediatr*. [Case Report / Case Series]
Posset R (2026). [PMID: 41851188](https://pubmed.ncbi.nlm.nih.gov/41851188/). *Sci Rep*. [Gene Therapy / Novel Therapeutics]
Cen Z (2026). [PMID: 40683404](https://pubmed.ncbi.nlm.nih.gov/40683404/). *Clin Chim Acta*. [Basic Science / Preclinical]
Brose SA (2025). [PMID: 39946830](https://pubmed.ncbi.nlm.nih.gov/39946830/). *Mol Genet Metab*. [Review / Meta-Analysis]
Yeo M (2025). [PMID: 40780027](https://pubmed.ncbi.nlm.nih.gov/40780027/). *Mol Genet Metab*. [Epidemiology / Natural History]