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language
eng
Author
Fu, Xiao wei
Kimura, Masahiko
Inoue, Makoto
Iga, Misako
Hasegawa, Kiyoshi
Ishioka, Chihiro
Yasuda, Kenji
Miyazaki, Kohji
Tomotsuka, Yoshito
Tanowaki, Tetsuo
Takagi, Junji
Ito, Toshio
Kajino, Yasuhisa
Ando, Yukinori
Yamaguchi, Seiji
Description
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.
Subject
neonatal mass screenning
inborn errors of metabolism
organic acidemia
gas chromatogrephy mass spectrometry
Journal Title
Shimane journal of medical science
Volume
16
Issue
1
Start Page
23
End Page
27
ISSN
03865959
ISSN(Online)
24332410
Published Date
1998-06-01
NCID
AA00841586
Publisher Aalternative
Shimane Medical University
NII Type
Departmental Bulletin Paper
Format
PDF
Text Version
出版社版
Gyoseki ID
e28144
e28144
OAI-PMH Set
Faculty of Medicine
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