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儿童维生素反应性运动障碍

Vitamin-Responsive Movement Disorders in Children.

作者信息

Sondhi Vishal, Sharma Suvasini

机构信息

Department of Pediatrics, Armed Forces Medical College, Pune, Maharashtra, India.

Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India.

出版信息

Ann Indian Acad Neurol. 2020 May-Jun;23(3):325-331. doi: 10.4103/aian.AIAN_678_19. Epub 2020 Jun 5.

DOI:10.4103/aian.AIAN_678_19
PMID:32606520
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7313573/
Abstract

Movement disorders in childhood comprise a heterogeneous group of conditions that lead to impairment of voluntary movement, abnormal postures, or inserted involuntary movements. Movement disorders in children are frequently caused by metabolic disorders, both inherited and acquired. Many of these respond to vitamin supplementation. Examples include infantile tremor syndrome, biotinidase deficiency, biotin-thiamine-responsive basal ganglia disease, pyruvate dehydrogenase deficiency, aromatic amino acid decarboxylase deficiency, ataxia with vitamin E deficiency, abetalipoproteinemia, cerebral folate deficiency, and cobalamin metabolism defects. Recognition of these disorders by pediatricians and neurologists is imperative as they are easily treated by vitamin supplementation. In this review, we discuss vitamin-responsive movement disorders in children.

摘要

儿童运动障碍包括一组异质性疾病,这些疾病会导致自主运动受损、姿势异常或出现不自主运动。儿童运动障碍常由遗传性和后天性代谢紊乱引起。其中许多疾病对维生素补充治疗有反应。例子包括婴儿震颤综合征、生物素酶缺乏症、生物素 - 硫胺素反应性基底节疾病、丙酮酸脱氢酶缺乏症、芳香族氨基酸脱羧酶缺乏症、维生素E缺乏性共济失调、无β脂蛋白血症、脑叶酸缺乏症和钴胺素代谢缺陷。儿科医生和神经科医生必须认识到这些疾病,因为通过补充维生素很容易治疗。在本综述中,我们讨论儿童维生素反应性运动障碍。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3adf/7313573/4706affc1907/AIAN-23-325-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3adf/7313573/4706affc1907/AIAN-23-325-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3adf/7313573/4706affc1907/AIAN-23-325-g001.jpg

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本文引用的文献

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Mov Disord. 2019 May;34(5):598-613. doi: 10.1002/mds.27568. Epub 2018 Dec 17.
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Clinical syndromes associated with Coenzyme Q deficiency.与辅酶 Q 缺乏相关的临床综合征。
Essays Biochem. 2018 Jul 20;62(3):377-398. doi: 10.1042/EBC20170107.
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Management of Pediatric Movement Disorders: Present and Future.小儿运动障碍的管理:现状与未来
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Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.生物素稳态与人类疾病:最新发现与展望。
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Semin Pediatr Neurol. 2018 Apr;25:136-151. doi: 10.1016/j.spen.2018.02.004. Epub 2018 Feb 8.
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Infantile tremor syndrome: A review and critical appraisal of its etiology.婴儿震颤综合征:对其病因的综述与批判性评估
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Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.通过新生儿筛查确诊的患有严重生物素酶缺乏症的大龄青少年和成年人的成功治疗结果。
Genet Med. 2017 Apr;19(4):396-402. doi: 10.1038/gim.2016.135. Epub 2016 Sep 22.
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