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A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

Hiroki Tsuchiya1, Tomoyuki Akiyama1, Tomiko Kuhara2

  • 1Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan; Department of Child Neurology, Okayama University Hospital, Okayama, Japan.

Brain & Development
|November 3, 2018
PubMed

Insights

Dihydropyrimidinase deficiency, a rare genetic disorder, was identified through urine metabolomics. Early detection via urinary pyrimidine analysis is crucial, especially before 5-fluorouracil treatment, due to potential toxicity.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Dihydropyrimidinase deficiency is a rare autosomal recessive disorder impacting pyrimidine degradation.
  • Caused by mutations in the DPYS gene, it presents with variable phenotypes, from asymptomatic to severe neurological illness.

Observation:

  • A case of dihydropyrimidinase deficiency was incidentally discovered using urine metabolome analysis.
  • Elevated levels of dihydrouracil and dihydrothymine were detected via gas chromatography-mass spectrometry and confirmed with liquid chromatography-tandem mass spectrometry.

Findings:

  • Genetic analysis identified a novel (c.175G>T) and a known (c.1469G>A) mutation in the DPYS gene.
  • The study suggests dihydropyrimidinase deficiency may be underdiagnosed due to its variable presentation and nonspecific neurological symptoms.

Implications:

  • Urinary pyrimidine analysis is recommended for individuals undergoing 5-fluorouracil treatment, particularly those with potential pyrimidine metabolic disorders.
  • Prompt diagnosis and monitoring are essential for managing patients with dihydropyrimidinase deficiency and preventing severe drug-associated toxicity.
Keywords:
5-FluorouracilDPYS genePyrimidine metabolismScreening

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