Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil

Citation
S. Sumi et al., Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil, INT J MOL M, 6(2), 2000, pp. 177-180
Citations number
8
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Medical Research General Topics
Journal title
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
ISSN journal
1107-3756 → ACNP
Volume
6
Issue
2
Year of publication
2000
Pages
177 - 180
Database
ISI
SICI code
1107-3756(200008)6:2<177:DOOTDH>2.0.ZU;2-V
Abstract
The importance of detecting heterozygosity for X-linked ornithine transcarb amylase deficiency is well known. Although the DNA analysis and the allopur inol loading tests are commonly used for this purpose, both methods require complicated procedures. In order to establish a simple test for detecting female heterozygotes, we examined the uracil and orotic acid in single-void ed urine samples from 70 healthy women, and from 12 asymptomatic females wi th ornithine transcarbamylase deficiency. Based on the results of healthy w omen, we were able to determine a screening cut-off line of 11.9 mu mol/mmo l creatinine (mean +/- 1SD in logarithmic form) for uracil. Using this cut- off line, the sensitivity of OCT heterozygotes was 100%. We were also able to establish a second cut-off line of 28.9 mu mol/mmol creatinine (mean +/- 3SD in logarithmic form) for diagnosis. Using this second cut off line, th e specificity of OCT heterozygotes was 100%. Our study has shown that the m easurement of urinary uracil is a relatively simple and effective method fo r detecting female heterozygotes.