A Japanese patient with neonatal biotin-responsive basal ganglia disease
Abstract 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 a...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2022-09-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-022-00210-z |
| _version_ | 1811253709977419776 |
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| author | Mizuki Kobayashi Yuichi Suzuki Maki Nodera Ayako Matsunaga Masakazu Kohda Yasushi Okazaki Kei Murayama Takanori Yamagata Hitoshi Osaka |
| author_facet | Mizuki Kobayashi Yuichi Suzuki Maki Nodera Ayako Matsunaga Masakazu Kohda Yasushi Okazaki Kei Murayama Takanori Yamagata Hitoshi Osaka |
| author_sort | Mizuki Kobayashi |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-12T16:55:07Z |
| format | Article |
| id | doaj.art-db0f904f9c1c400dad254b89483a2bdf |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-04-12T16:55:07Z |
| publishDate | 2022-09-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-db0f904f9c1c400dad254b89483a2bdf2022-12-22T03:24:16ZengNature Publishing GroupHuman Genome Variation2054-345X2022-09-01911310.1038/s41439-022-00210-zA Japanese patient with neonatal biotin-responsive basal ganglia diseaseMizuki Kobayashi0Yuichi Suzuki1Maki Nodera2Ayako Matsunaga3Masakazu Kohda4Yasushi Okazaki5Kei Murayama6Takanori Yamagata7Hitoshi Osaka8Division of Pediatrics, Jichi Medical UniversityDepartment of Pediatrics, Fukushima Medical University School of MedicineDepartment of Pediatrics, Fukushima Medical University School of MedicineCenter for Medical Genetics, Department of Metabolism, Chiba Children’s HospitalDiagnostics and Therapeutics of Interactable Diseases, Interactable Disease Research Center, Graduate School of Medicine, Juntendo UniversityDiagnostics and Therapeutics of Interactable Diseases, Interactable Disease Research Center, Graduate School of Medicine, Juntendo UniversityCenter for Medical Genetics, Department of Metabolism, Chiba Children’s HospitalDivision of Pediatrics, Jichi Medical UniversityDivision of Pediatrics, Jichi Medical UniversityAbstract 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.https://doi.org/10.1038/s41439-022-00210-z |
| spellingShingle | Mizuki Kobayashi Yuichi Suzuki Maki Nodera Ayako Matsunaga Masakazu Kohda Yasushi Okazaki Kei Murayama Takanori Yamagata Hitoshi Osaka A Japanese patient with neonatal biotin-responsive basal ganglia disease Human Genome Variation |
| 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 |
| url | https://doi.org/10.1038/s41439-022-00210-z |
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