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Urinary uracil in female patients with ornithine transcarbamylase deficiency
Author(s) -
Sumi Satoshi,
Imaeda Masayuki,
Ito Tetsuya,
Ueta Akihito,
Ban Kyoko,
Ohkubo Yumiko,
Togari Hajime
Publication year - 2005
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.2005.02063.x
Subject(s) - hyperammonemia , asymptomatic , orotic acid , medicine , ornithine transcarbamylase deficiency , uracil , ornithine transcarbamylase , gastroenterology , urinary system , endocrinology , urea cycle , biochemistry , biology , dna , amino acid , arginine
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.