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学科主题: 临床医学
题名:
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type
作者: Liu, Yupeng; Wang, Qiao; Li, Xiyuan; Ding, Yuan; Song, Jinqing; Yang, Yanling
关键词: Combined methylmalonic aciduria and homocystinuria ; cblC type ; MMACHC ; Pregnancy
刊名: BRAIN & DEVELOPMENT
发表日期: 2015-03-01
DOI: 10.1016/j.braindev.2014.06.007
卷: 37, 期:3, 页:286-291
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]: PYRIDOXINE-NONRESPONSIVE HOMOCYSTINURIA ; RISK FACTOR ; FOLIC-ACID ; HYPERHOMOCYSTEINEMIA ; WOMEN ; METABOLISM ; PROGNOSIS ; CHILDREN ; DISEASE ; GC/MS
英文摘要:

Objective: Combined methylmalonic aciduria (MMA) and homocystinuria, cblC type, is the most common MMA in Mainland China. Its clinical spectrum varies from severe neonatal-onset forms, with brain injury and high mortality to milder forms with late onset. Timely diagnosis and adequate treatment greatly improve the prognosis. In the past 15 years, many Chinese patients with this condition have achieved favorable treatment outcomes, and some of them have reached childbearing age. Here, we report the first case of Chinese woman with cblC undergoing a successful pregnancy and delivering a healthy boy. Methods: A patient of late-onset cblC, who achieved successful pregnancy and delivery of a healthy boy, was enrolled in our studies. The patient and her disease characteristics were analyzed, including age at onset, age at diagnosis, clinical presentation, clinical classification, family history, laboratory findings and MMACHC gene mutation. Results: Our patient presented mild neurological symptoms at the age of 15 years. She had the compound heterozygous mutations, c.315C>G and c.482G>A, on the MMACHC gene. After long-term treatment with cobalamin, calcium folinate, 1-carnitine and betaine, along with normal diet, she recovered completely. At age 23, she visited us for genetic counseling and fetal evaluation at 15 weeks of gestation. Her general condition and the fetal growth were normal. At 20 weeks of gestation, intramuscular cobalamin was changed to pure hydroxocobalamin (1 mg, every other day) because of markedly elevated urine MMA and plasma total homocysteine. In addition, the dosages of 1-carnitine (1 g, p.o., tds), folic acid (5 mg, p.o., tds) and betaine (1 g, p.o., tds) were increased. Protein intake was not restricted. Conclusions: This is the first report of a Chinese woman with cblC, undergoing a successful pregnancy and delivering a healthy baby at term. The favorable outcome of the patient and her fetus should owe much to the mild phenotype of her disease. (C) 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

语种: 英语
所属项目编号: 30872794 ; 2012BAI09B04
项目资助者: National Nature Science Foundation of China ; 12th Five-year Plan National Key Technology R &amp ; D Program from the Ministry of Science and Technology
WOS记录号: WOS:000350094300003
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61016
Appears in Collections:北京大学第一临床医学院_期刊论文

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作者单位: Peking Univ, Hosp 1, Beijing 100034, Peoples R China

Recommended Citation:
Liu, Yupeng,Wang, Qiao,Li, Xiyuan,et al. First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type[J]. BRAIN & DEVELOPMENT,2015,37(3):286-291.
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