{
  "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.",
  "authors": [
    {
      "affiliations": [
        "Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Orissa, India"
      ],
      "name": "Shrutiprajna Kar"
    },
    {
      "affiliations": [
        "Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Orissa, India"
      ],
      "name": "Praneetha Mude"
    },
    {
      "affiliations": [
        "Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Orissa, India"
      ],
      "name": "Tapas K Som"
    },
    {
      "affiliations": [
        "Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Orissa, India"
      ],
      "name": "Tanushree Sahoo"
    }
  ],
  "title": "From consanguinity to crisis: a rare cause of neonatal encephalopathy",
  "uid": "7c89ed21-8bd8-5bbb-b577-e16f13fadc5a"
}