ダウンロード数 : ?
ファイル
言語
英語
著者
Fu, Xiao wei
木村 正彦
井上 真
伊賀 三佐子
長谷川 清
石岡 千寛
安田 謙二
宮崎 康二
Tomotsuka, Yoshito
Tanowaki, Tetsuo
Takagi, Junji
Ito, Toshio
楫野 恭久
Ando, Yukinori
山口 清次
内容記述(抄録等)
We have performed a pilot study of neonatal mass screening for inborn errors of metabolism (IEM) by gas chromatography-mass spectrometry (GC/MS) using urine specimens in the Shimane area. In this project, 1,686 babies born in several institutes in Shimane were screened for 18months from May, 1996 to October, 1997. The automated metabolic profiling and disease detection system developed by us was applied to this screening. Patients with definite IEM were not identified, but several transient abnormalities in the neonatal period, such as elevation of 4-hydroxyphenyllactate, galactose, or 3-hydroxy-3-methylglutarate, were observed in 112 (6.2%), in particular, more frequently in low birth weight infants. In order to test the usefulness of our screening system, samples from 13 patients with 9 different metabolic disorders previously diagnosed were analyzed. Consequently, methylmalonic acidemia, isovaleric acidemia and glyceroluria were detectable without fail. In cases of propionic acidemia, phenylketonuria, maple syrup urine disease, ornitine transcarbamylase deficiency or glutaric aciduria type 2,the detection of their diagnostic marker metabolites seemed unstable.
主題
neonatal mass screenning
inborn errors of metabolism
organic acidemia
gas chromatogrephy mass spectrometry
掲載誌名
Shimane journal of medical science
16
1
開始ページ
23
終了ページ
27
ISSN
03865959
ISSN(Online)
24332410
発行日
1998-06-01
NCID
AA00841586
出版者別表記
Shimane Medical University
資料タイプ
紀要論文
ファイル形式
PDF
著者版/出版社版
出版社版
部局
医学部
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