Urinary uracil in female patients with ornithine transcarbamylase deficiency.


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… (More)


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