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Article

Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.

Journal of clinical laboratory analysis - 1 Feb 2018

Zhang Guoqing, Chen Yulin, Ju Huiqun, Bei Fei, Li Jing, Wang Jian, Sun Jianhua, Bu Jun

Abstract excerpt

BACKGROUND: Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive inborn metabolic disease characterized mainly by hyperammonemia. The fatal nature of CPS1D and its similar symptoms with other urea cycle disorders (UCDs) make its diagnosis difficult, and the molecular diagnosis is hindered due to the large size of the causative gene CPS1. Therefore, the objective of the present study...

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Source

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Identifiers

PMID: 28444906
DOI: 10.1002/jcla.22241
PMCID: PMC6817081

Genes

CPS1

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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