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The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1
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
2015
DOI10.1016/j.braindev.2014.01.010
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
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 ; National Nature Science Foundation of China ; 12th Five-year Plan National Key Technology R &amp ; D Program from the Ministry of Science and Technology
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
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 ; 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
引用统计
被引频次:3[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/53850
专题北京大学第一临床医学院_儿科
作者单位1.Similan Clin, Beijing 100070, Peoples R China
2.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
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.
APA Wang, Qiao,Li, Xiyuan,Ding, Yuan,Liu, Yupeng,Qin, Yaping,&Yang, Yanling.(2015).The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1.BRAIN & DEVELOPMENT,37(1),163-167.
MLA Wang, Qiao,et al."The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1".BRAIN & DEVELOPMENT 37.1(2015):163-167.
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