From consanguinity to crisis: a rare cause of neonatal encephalopathy

BMJ Case Reports 2026

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Authors: Shrutiprajna Kar, Praneetha Mude, Tapas Kumar Som, Tanushree Sahoo
DOI: 10.1136/bcr-2025-267688
Cited by: 0
References: 7

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.

Fields of Study & Subjects

Metabolism and Genetic Disorders Neonatal Health and Biochemistry Biochemical and Molecular Research

Publication details

Journal / source
BMJ Case Reports
Volume
19
Issue
2
Pages
e267688–e267688
Publication date
1 February 2026
Language
EN