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Neonatal carbamoyl phosphate synthetase I deficiency with severe hyperammonemic coma: the first report from Palestine

Abstract Background Carbamoyl phosphate synthetase I deficiency (CPS1D) is the most proximal and severe urea cycle disorder, often presenting in the neonatal period with rapidly progressive hyperammonemia. Early symptoms are often nonspecific, posing significant diagnostic challenges and contributin...

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Principais autores: Anas K. Assi, Amro Odeh, Habeeb H. Awwad, Hanin Kassem, Imad Dweikat
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2026-03-01
Serier:BMC Pediatrics
Fag:
Carbamoyl phosphate synthetase I deficiency
Urea cycle disorder
Neonatal hyperammonemia
Encephalopathy
Whole-exome sequencing
Online adgang:https://doi.org/10.1186/s12887-026-06793-8
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