北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 儿科  > 期刊论文
学科主题: 临床医学
题名:
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening
作者: Hori, D; Hasegawa, Y; Kimura, M; Yang, YL; Verma, IC; Yamaguchi, S
关键词: organic acidemia ; GC/MS ; clinical onset ; outcome ; newborn screening
刊名: BRAIN & DEVELOPMENT
发表日期: 2005
DOI: 10.1016/j.braindev.2004.04.004
卷: 27, 期:1, 页:39-45
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: FATTY-ACID ; FILTER-PAPER ; SPECTROMETRY ; DISORDERS ; METABOLISM ; AMINO
英文摘要:

Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propionic acidemia (23 cases), ornitine transcarbamylase deficiency (22 cases), and multiple carboxylase deficiency (15 cases). For these 188 patients, onset was most frequent in the neonatal period or early infancy. Approximately 30% of the patients had a family history of similar symptoms or diseases. Although the outcome of OA patients varied, patients with early onset generally had poor outcomes despite early detection. Of the 45 MMA patients whose clinical data were available, 25 were clinically vitamin B12-responsive, while the remaining 20 were non-responsive. A favorable outcome was obtained in 7 of the 25 B12-responsive patients, and in only 3 of the 20 B12-nonresponsive patients. It was suggested that even in B12-responsive NIMA cases, earlier detection and B12 therapy were needed to improve the prognosis. We concluded that detection of such patients at the presymptomatic stages using newborn mass screening is essential for prognosis improvement with OAs. (C) 2004 Elsevier B.V. All rights reserved.

语种: 英语
WOS记录号: WOS:000226539400008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55253
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 1.Shimane Univ, Fac Med, Dept Pediat, Izumo, Shimane 6938501, Japan
2.Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China
3.Sir Ganga Ram Hosp, Dept Med Genet, New Delhi, India

Recommended Citation:
Hori, D,Hasegawa, Y,Kimura, M,et al. Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening[J]. BRAIN & DEVELOPMENT,2005,27(1):39-45.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Hori, D]'s Articles
[Hasegawa, Y]'s Articles
[Kimura, M]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Hori, D]‘s Articles
[Hasegawa, Y]‘s Articles
[Kimura, M]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace