Citrullinemia type 1 manifesting with a stroke-like episode: a case report
Alaa Zayed, Hamza A Abdul-Hafez, Motea Ashhab, Imad Dweikat · 2026
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Description
Citrullinemia type 1 (CTLN1) is a rare inherited disorder caused by mutations in the argininosuccinate synthetase 1 (ASS1) gene, disrupting the urea cycle and leading to toxic ammonia accumulation. It typically presents in newborns with lethargy, vomiting, and poor feeding. Stroke-like neurological presentations are very rare. We report a 19-month-old boy presenting with sudden right-sided weakness, lethargy, and difficulty standing.
Catalog record
| CREATOR | Alaa Zayed, Hamza A Abdul-Hafez, Motea Ashhab, Imad Dweikat |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 21 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |