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Article

Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.

European journal of pediatrics - 1 Mar 2016

Ali Ernie Zuraida, Khalid Mohd Khairul Nizam Mohd, Yunus Zabedah Md, Yakob Yusnita, Chin Chen Bee, Abd Latif Kartikasalwah, Hock Ngu Lock

Abstract excerpt

UNLABELLED: Carbamoyl phosphate synthetase 1 (CPS1) deficiency is a rare autosomal recessive disorder of ureagenesis presenting as life-threatening hyperammonemia. In this study, we present the main clinical features and biochemical and molecular data of six Malaysian patients with CPS1 deficiency. All the patients have neonatal-onset symptoms, initially diagnosed as infections before hyperammonemia was...

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Source

Identifiers

PMID: 26440671
DOI: 10.1007/s00431-015-2644-z

Genes

CPS1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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