Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.
作者信息
Wolf Barry
机构信息
Division of Genetics, Birth Defects and Metabolic Diseases of the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago and Professor of Pediatrics, USA.
出版信息
Mult Scler J Exp Transl Clin. 2020 Apr 29;6(2):2055217320923131. doi: 10.1177/2055217320923131. eCollection 2020 Apr-Jun.
Abstract
摘要
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1
Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.任何患有多发性硬化症且在大剂量使用生物素后神经功能显著改善的个体，都应接受生物素酶缺乏症的评估。
Mult Scler J Exp Transl Clin. 2020 Apr 29;6(2):2055217320923131. doi: 10.1177/2055217320923131. eCollection 2020 Apr-Jun.
2
Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.疑有多发性硬化症及相关疾病者，应考虑生物素酶缺乏症。
Mult Scler Relat Disord. 2019 Feb;28:26-30. doi: 10.1016/j.msard.2018.11.030. Epub 2018 Nov 28.
3
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.生物素酶缺乏症：迟发性多种羧化酶缺乏症中的酶缺陷。
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Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.25年来，在密歇根州通过新生儿筛查确诊的重度和部分生物素酶缺乏症患者的治疗结果。
Genet Med. 2015 Mar;17(3):205-9. doi: 10.1038/gim.2014.104. Epub 2014 Aug 21.
5
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.多种羧化酶缺乏症：生物素代谢的遗传性和获得性疾病。
Int J Vitam Nutr Res. 1997;67(5):377-84.
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Biotinidase deficiency and our champagne legacy.生物素酶缺乏症与我们的香槟传承。
Gene. 2016 Sep 10;589(2):142-50. doi: 10.1016/j.gene.2015.10.010. Epub 2015 Oct 9.
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Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
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Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.一种严重生物素酶缺乏症小鼠的建立与特征描述：一种生物素反应性神经皮肤疾病。
Mol Genet Metab. 2011 Feb;102(2):161-9. doi: 10.1016/j.ymgme.2010.10.005. Epub 2010 Oct 13.
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Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency.
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Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency.生物素酶缺乏小鼠细胞免疫的特征及功能分析
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本文引用的文献
1
High-dose biotin in progressive multiple sclerosis: A prospective study of 178 patients in routine clinical practice.大剂量生物素治疗进展型多发性硬化症：前瞻性研究 178 例常规临床实践患者。
Mult Scler. 2020 Dec;26(14):1898-1906. doi: 10.1177/1352458519894713. Epub 2019 Dec 17.
2
Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.疑有多发性硬化症及相关疾病者，应考虑生物素酶缺乏症。
Mult Scler Relat Disord. 2019 Feb;28:26-30. doi: 10.1016/j.msard.2018.11.030. Epub 2018 Nov 28.
3
High dose biotin as treatment for progressive multiple sclerosis.大剂量生物素治疗进行性多发性硬化。
Mult Scler Relat Disord. 2017 Nov;18:141-143. doi: 10.1016/j.msard.2017.09.030. Epub 2017 Sep 29.
4
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.成人期生物素酶缺乏症：两名患有严重但可逆性视神经病变的患者。
J Neurol Neurosurg Psychiatry. 2018 Sep;89(9):1009-1010. doi: 10.1136/jnnp-2017-316644. Epub 2017 Oct 12.
5
Biotinidase deficiency masquerading as multiple sclerosis?生物素酶缺乏症会伪装成多发性硬化症吗？
Mult Scler. 2018 Feb;24(2):237-238. doi: 10.1177/1352458517702551. Epub 2017 Mar 24.
6
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.对于出现脊髓病且伴有或不伴有视力丧失的个体，应考虑生物素酶缺乏症。
Mol Genet Metab. 2015 Nov;116(3):113-8. doi: 10.1016/j.ymgme.2015.08.012. Epub 2015 Sep 3.
7
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.模仿视神经脊髓炎的生物素酶缺乏症：成年期首次出现症状。
Mult Scler. 2015 Oct;21(12):1604-7. doi: 10.1177/1352458515596457. Epub 2015 Jul 22.
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