title: Urinary uracil in female patients with ornithine transcarbamylase deficiency.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, Neonatology and Congenital Disorders, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan. satoshi-sumi@mbn.nifty.com
authors.forename: Satoshi
authors.initials: S
authors.lastname: Sumi
authors.forename: Masayuki
authors.initials: M
authors.lastname: Imaeda
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Ito
authors.forename: Akihito
authors.initials: A
authors.lastname: Ueta
authors.forename: Kyoko
authors.initials: K
authors.lastname: Ban
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Ohkubo
authors.forename: Hajime
authors.initials: H
authors.lastname: Togari
mesh_terms: D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D022124:Hyperammonemia / Q000652:urine; D007223:Infant; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000235:genetics / Q000652:urine*; D009963:Orotic Acid / Q000652:urine; D014498:Uracil / Q000652:urine*
chemical_list: D014498:Uracil; D009963:Orotic Acid