Urinary uracil in female patients with ornithine transcarbamylase deficiency

Satoshi Sumi, Masayuki Imaeda, Tetsuya Ito, Akihito Ueta, Kyoko Ban, Yumiko Ohkubo, Hajime Togari

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Background: Female patients with ornithine transcarbamylase deficiency (OTCD) show a wide range of clinical severity, from asymptomatic to lethal hyperammonemia. It is important to establish a simple method to distinguish symptomatic from asymptomatic patients. Methods: Uracil and orotic acid concentrations were analyzed in three female patients with OTCD at both the hyperammonemia-attack and interval stages. These concentrations were compared with those in asymptomatic female patients reported previously. Results: Uracil concentrations in symptomatic female patients were uniformly higher than those in asymptomatic female patients at both the hyperammonemia-attack and interval stages. Conclusion: Uracil may present a useful index for detecting OTCD female patients who are destined to suffer from hyperammonemia attack. Further data on uracil concentrations are necessary to establish the threshold for distinguishing symptomatic from asymptomatic subjects.

Original languageEnglish
Pages (from-to)262-266
Number of pages5
JournalPediatrics International
Volume47
Issue number3
DOIs
Publication statusPublished - 01-06-2005
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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