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Titolo:
Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil
Autore:
Sumi, S; Matsuura, T; Kidouchi, K; Togari, H; Kubota, M; Kitou, O; Mikami, H; Ohura, T; Matsuda, I; Wada, Y;
Indirizzi:
Nagoya City Univ, Sch Med, Dept Pediat, Showa Ku, Nagoya, Aichi 466, JapanNagoya City Univ Nagoya Aichi Japan 466 howa Ku, Nagoya, Aichi 466, Japan Kumamoto Univ, Sch Med, Dept Pediat, Kumamoto 860, Japan Kumamoto Univ Kumamoto Japan 860 h Med, Dept Pediat, Kumamoto 860, Japan Nagoya City Higashi Gen Hosp, Dept Pediat, Nagoya, Aichi, Japan Nagoya City Higashi Gen Hosp Nagoya Aichi Japan at, Nagoya, Aichi, Japan Hokkaido Univ, Dept Pediat, Sapporo, Hokkaido, Japan Hokkaido Univ Sapporo Hokkaido Japan pt Pediat, Sapporo, Hokkaido, Japan Nagoya First Red Cross Hosp, Dept Pediat, Nagoya, Aichi, Japan Nagoya First Red Cross Hosp Nagoya Aichi Japan iat, Nagoya, Aichi, Japan Iwate Cent Hosp, Dept Pediat, Morioka, Iwate, Japan Iwate Cent Hosp Morioka Iwate Japan , Dept Pediat, Morioka, Iwate, Japan Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi 980, Japan Tohoku Univ Sendai Miyagi Japan 980 ept Pediat, Sendai, Miyagi 980, Japan
Titolo Testata:
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
fascicolo: 2, volume: 6, anno: 2000,
pagine: 177 - 180
SICI:
1107-3756(200008)6:2<177:DOOTDH>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
OTC DEFICIENCY; MUTATIONS; GENE;
Keywords:
ornithine transcarbamylase deficiency; heterozygotes; uracil;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
8
Recensione:
Indirizzi per estratti:
Indirizzo: Sumi, S Nagoya City Univ, Sch Med, Dept Pediat, Showa Ku, 6-4 Kawanayama Cho, Nagoya, Aichi 466, Japan Nagoya City Univ 6-4 Kawanayama Cho Nagoya Aichi Japan 466 , Japan
Citazione:
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

Abstract

The importance of detecting heterozygosity for X-linked ornithine transcarbamylase deficiency is well known. Although the DNA analysis and the allopurinol loading tests are commonly used for this purpose, both methods require complicated procedures. In order to establish a simple test for detectingfemale heterozygotes, we examined the uracil and orotic acid in single-voided urine samples from 70 healthy women, and from 12 asymptomatic females with ornithine transcarbamylase deficiency. Based on the results of healthy women, we were able to determine a screening cut-off line of 11.9 mu mol/mmol creatinine (mean +/- 1SD in logarithmic form) for uracil. Using this cut-off line, the sensitivity of OCT heterozygotes was 100%. We were also ableto 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, the specificity of OCT heterozygotes was 100%. Our study has shown that the measurement of urinary uracil is a relatively simple and effective method for detecting female heterozygotes.

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Documento generato il 26/11/20 alle ore 08:24:15