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Updated: Feb 12, 2026

A Piglet Model of Neonatal Hypoxic-Ischemic Encephalopathy
Published on: May 16, 2015
From consanguinity to crisis: a rare cause of neonatal encephalopathy
Shrutiprajna Kar1, Praneetha Mude1, Tapas K Som1
1Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Orissa, India.
Abstract:
Carbamoyl phosphate synthetase 1 (CPS-1) deficiency is a rare autosomal recessive disorder that disrupts the proximal mitochondrial phase of the urea cycle, resulting in impaired ureagenesis, hyperammonaemia and metabolic decompensation during the neonatal period. This condition is linked to significant neurological impairment and poses a considerable risk of mortality, especially in newborns. This case underscores the importance of recognising urgent clinical presentation and the intricate management challenges encountered in the treatment of early-onset CPS-1 deficiency.
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