日本新生儿生物素反应性基底神经节病1例。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2022-09-29 DOI:10.1038/s41439-022-00210-z

Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera, Ayako Matsunaga, Masakazu Kohda, Yasushi Okazaki, Kei Murayama, Takanori Yamagata, Hitoshi Osaka

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引用次数: 1

摘要

生物素反应性基底神经节病(BBGD)伴SLC19A3突变于1998年首次报道，目前已报道了30多种突变。我们报告一个新生儿BBGD病例突发性喂养困难和意识受损。开始生物素和硫胺素治疗后，脑病消失。基因检测发现一种新的杂合突变[c。384 _387del p.Tyr128fs]; [c。[6] [A] [C]， [p] [C]。早期治疗BBGD至关重要，特别是在新生儿或婴儿期早期发病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

A Japanese patient with neonatal biotin-responsive basal ganglia disease.

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A Japanese patient with neonatal biotin-responsive basal ganglia disease.

Biotin-responsive basal ganglia disease (BBGD) with SLC19A3 mutation was first reported in 1998, and over 30 mutations have been reported. We report a neonatal BBGD case with sudden-onset feeding difficulty and impaired consciousness. Encephalopathy resolved after the initiation of biotin and thiamine treatment. Genetic testing revealed a novel heterozygous mutation [c.384_387del, p.Tyr128fs];[c.265 A > C, p.Ser89Arg] in SLC19A3. Early treatment for BBGD is essential, especially with onset in the neonatal or early infancy period.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks