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 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.
Sumi
Satoshi
S
Department of Pediatrics, Neonatology and Congenital Disorders, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan. satoshi-sumi@mbn.nifty.com
Imaeda
Masayuki
M
Ito
Tetsuya
T
Ueta
Akihito
A
Ban
Kyoko
K
Ohkubo
Yumiko
Y
Togari
Hajime
H
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*
D014498:Uracil; D009963:Orotic Acid