Bibliographic Details
| Title: |
A Japanese patient with neonatal biotin-responsive basal ganglia disease |
| Authors: |
Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera, Ayako Matsunaga, Masakazu Kohda, Yasushi Okazaki, Kei Murayama, Takanori Yamagata, Hitoshi Osaka |
| Source: |
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022) |
| Publisher Information: |
Nature Publishing Group, 2022. |
| Publication Year: |
2022 |
| Collection: |
LCC:Genetics
LCC:Life |
| Subject Terms: |
Genetics, QH426-470, Life, QH501-531 |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2054-345X |
| Relation: |
https://doaj.org/toc/2054-345X |
| DOI: |
10.1038/s41439-022-00210-z |
| Access URL: |
https://doaj.org/article/db0f904f9c1c400dad254b89483a2bdf |
| Accession Number: |
edsdoj.b0f904f9c1c400dad254b89483a2bdf |
| Database: |
Directory of Open Access Journals |
