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学科主题: 临床医学
题名:
Clinical and biochemical studies on Chinese patients with methylmalonic aciduria
作者: Yang, Yanling; Sun, Fang; Song, Jinqing; Hasegawa, Yuki; Yamaguchi, Seiji; Zhang, Yuehua; Jiang, Yuwu; Qin, Jiong; Wu, Xiru
刊名: JOURNAL OF CHILD NEUROLOGY
发表日期: 2006-12-01
DOI: 10.2310/7010.2006.00231
卷: 21, 期:12, 页:1020-1024
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology ; Pediatrics
研究领域[WOS]: Neurosciences & Neurology ; Pediatrics
关键词[WOS]: METABOLIC ACIDOSIS ; INBORN ERROR ; URINE
英文摘要:

Xlethylmalonic aciduria is a common organic aciduria disease. Recently, gas chromatography-mass spectrometry has been used to diagnose methylmalonic aciduria in China. Often, however, the diagnosis of methylmalonic aciduria is delayed because of a lack of technical expertise and the limited experience of general clinicians in China. In this study, the natural history, clinical features, and outcome of 77 Chinese patients with methylmalonic aciduria were investigated. Of the 77 patients, 31 (40.3%) had isolated methylmalonic aciduria and 46 (59.7%) had methylmalonic aciduria combined with homocystinemia. Thus, we observed a higher rate of the combined disease than studies conducted in other countries, suggesting that it might be more common in China. Total plasma homocysteine measurement might enable differential diagnoses of methylmalonic aciduria to be distinguished. The clinical spectrum of these 77 patients with methylmalonic aciduria ranged from neonatal death and severe symptoms to benign asymptomatic organic aciduria. Neonatal and infantile onset, which was a characteristic of the majority of cases, was associated with a greater severity relative to later-onset cases. Among the 17 cases who had onset after 3 years of age, only 1 patient had isolated methylmalonic aciduria and 16 had combined methylmalonic aciduria and homocystinemia. Nine of the patients with combined methylmalonic aciduria and homocystinemia completely recovered and exhibited normal intelligence, whereas seven improved, with a mild handicap.

语种: 英语
WOS记录号: WOS:000243207000003
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/63904
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Shimane Med Univ, Sch Med, Dept Pediat, Izumo, Shimane 693, Japan

Recommended Citation:
Yang, Yanling,Sun, Fang,Song, Jinqing,et al. Clinical and biochemical studies on Chinese patients with methylmalonic aciduria[J]. JOURNAL OF CHILD NEUROLOGY,2006,21(12):1020-1024.
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