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学科主题: 临床医学
题名:
The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1
作者: Wang, Qiao1; Li, Xiyuan1; Ding, Yuan1; Liu, Yupeng1; Qin, Yaping2; Yang, Yanling1
关键词: Hereditary folate malabsorption ; Cerebral folate deficiency ; Megaloblastic anemia ; Intracranial calcification ; Proton-coupled folate transporter ; SLC46A1 gene
刊名: BRAIN & DEVELOPMENT
发表日期: 2015
DOI: 10.1016/j.braindev.2014.01.010
卷: 37, 期:1, 页:163-167
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]: FOLINIC ACID ; TRANSPORTER
英文摘要:

Background: Hereditary folate malabsorption is a rare, autosomal recessive disorder of proton-coupled folate transporter deficiency resulting in folate deficiency. Left untreated, the condition can cause severe brain damage and megaloblastic anemia, leading to progressive psychomotor retardation, seizures and other neurological problems. Early diagnosis and treatment are crucial. No case has been documented yet in Mainland China until now. Methods: A Chinese girl affected by hereditary folate malabsorption was studied. The girl presented with recurrent megaloblastic anemia from the age of 7 months. Paroxysmal limbs trembling and seizures were presented from the age of three years. Intracranial calcification was noted by CT. At her age of 5 years, mental regression, lower-extremity weakness and sleeping problems were observed. Her plasma folate decreased to 4.49 nmol/L (normal control > 6.8 nmol/L). Plasma total homocysteine elevated to 28.11 mu mol/L (normal control < 15 mu mol/L). Folate and 5-methylterahydrofolate in cerebrospinal fluid were significantly decreased to undetectable level. Results: On SLC46A1 gene, a novel mutation, c.1A>T (M1L), and a reported mutation c.194-195insG (p.Cys66LeufsX99) were identified, supported the diagnosis of hereditary folate malabsorption. Each parent carries one of two mutations. Folinic calcium supplement resulted in rapid clinical improvement. She is currently 6 years old with normal development and routine blood features. Conclusion: Hereditary folate malabsorption is one of the few easily-treatable inherited metabolic diseases. Measurements of folate and 5-methyltetrahydrofolate in cerebrospinal fluid are keys for the diagnosis of the patients. (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:000349202300026
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/53850
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.Similan Clin, Beijing 100070, Peoples R China
2.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
Wang, Qiao,Li, Xiyuan,Ding, Yuan,et al. The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1[J]. BRAIN &amp; DEVELOPMENT,2015,37(1):163-167.
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