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Article

Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.

Journal of clinical laboratory analysis - 1 Jun 2018

Chen Xihui, Yuan Lijuan, Sun Mao, Liu Qingbo, Wu Yuanming

Abstract excerpt

BACKGROUND: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive disorder of the urea cycle, mostly characterized by hyperammonemia and the concomitant leukodystrophy. The onset of CPS1D can be at any age, and the clinical manifestations are variable and atypical. Genetic tests are indispensable for accurate diagnosis of CPS1D on the basis of biochemical tests. METHODS: Blood tandem...

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Identifiers

PMID: 29314318
DOI: 10.1002/jcla.22375
PMCID: PMC6816849

Genes

CPS1

Variants

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