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language
eng
Attribute
original article
Author
Takahashi, Tomoo
Hasegawa, Yuki
Yamada, Kenji
Bo, Ryosuke
Kobayashi, Hironori
Fukuda, Seiji
Yamaguchi, Seiji
Description
To determine the relation between sudden unexpected death in infancy (SUDI) or apparent lifethreatening events (ALTE) and inborn errors of metabolism (IMD), we investigated clinical and biochemical features in patients presenting with SUDI or ALTE, who were diagnosed with having hidden IMD. Subjects were infants between aged from 2 days and 3 years, detected during the period between January 2004 and December 2014. The diagnosis of IMD was based on the findings of gas chromatography/mass spectrometry and/or tandem mass spectrometry. IMDs were detected in 3 of 239 (1.2%) patients with SUDI, and in 22 of 219 (10.0%) patients with ALTE. These patients had a history of some prodromal illness and/or abnormalities of routine laboratory tests. When a case with SUDI or ALTE is encountered at an emergency unit, it is essential to take detailed medical histories and to measure biochemistry tests including mass spectrometric analysis as well as genetic testing.
Subject
inherited metabolic diseases
sudden unexpected death in infancy
apparent life-threatening events
gas chromatography:mass
tandem mass spectrometry
Journal Title
Shimane journal of medical science
Volume
32
Issue
2
Start Page
61
End Page
68
ISSN
03865959
ISSN(Online)
24332410
Published Date
2016
NCID
AA00841586
Publisher
Shimane University Faculty of Medicine
NII Type
Departmental Bulletin Paper
Format
PDF
Text Version
出版社版
Gyoseki ID
e28718
e32803
e28724
OAI-PMH Set
Faculty of Medicine
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