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 thiami...

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Autores principales: Kobayashi, Mizuki, Suzuki, Yuichi, Nodera, Maki, Matsunaga, Ayako, Kohda, Masakazu, Okazaki, Yasushi, Murayama, Kei, Yamagata, Takanori, Osaka, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9522647/
https://www.ncbi.nlm.nih.gov/pubmed/36175418
http://dx.doi.org/10.1038/s41439-022-00210-z
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author Kobayashi, Mizuki
Suzuki, Yuichi
Nodera, Maki
Matsunaga, Ayako
Kohda, Masakazu
Okazaki, Yasushi
Murayama, Kei
Yamagata, Takanori
Osaka, Hitoshi
author_facet Kobayashi, Mizuki
Suzuki, Yuichi
Nodera, Maki
Matsunaga, Ayako
Kohda, Masakazu
Okazaki, Yasushi
Murayama, Kei
Yamagata, Takanori
Osaka, Hitoshi
author_sort Kobayashi, Mizuki
collection PubMed
description 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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spelling pubmed-95226472022-10-01 A Japanese patient with neonatal biotin-responsive basal ganglia disease Kobayashi, Mizuki Suzuki, Yuichi Nodera, Maki Matsunaga, Ayako Kohda, Masakazu Okazaki, Yasushi Murayama, Kei Yamagata, Takanori Osaka, Hitoshi Hum Genome Var Data Report 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. Nature Publishing Group UK 2022-09-29 /pmc/articles/PMC9522647/ /pubmed/36175418 http://dx.doi.org/10.1038/s41439-022-00210-z Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Kobayashi, Mizuki
Suzuki, Yuichi
Nodera, Maki
Matsunaga, Ayako
Kohda, Masakazu
Okazaki, Yasushi
Murayama, Kei
Yamagata, Takanori
Osaka, Hitoshi
A Japanese patient with neonatal biotin-responsive basal ganglia disease
title A Japanese patient with neonatal biotin-responsive basal ganglia disease
title_full A Japanese patient with neonatal biotin-responsive basal ganglia disease
title_fullStr A Japanese patient with neonatal biotin-responsive basal ganglia disease
title_full_unstemmed A Japanese patient with neonatal biotin-responsive basal ganglia disease
title_short A Japanese patient with neonatal biotin-responsive basal ganglia disease
title_sort japanese patient with neonatal biotin-responsive basal ganglia disease
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9522647/
https://www.ncbi.nlm.nih.gov/pubmed/36175418
http://dx.doi.org/10.1038/s41439-022-00210-z
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