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.

Details

Title
A Japanese patient with neonatal biotin-responsive basal ganglia disease
Author
Kobayashi, Mizuki 1 ; Suzuki, Yuichi 2 ; Nodera, Maki 2 ; Matsunaga, Ayako 3 ; Kohda, Masakazu 4 ; Okazaki, Yasushi 4   VIAFID ORCID Logo  ; Murayama, Kei 3 ; Yamagata, Takanori 1   VIAFID ORCID Logo  ; Osaka, Hitoshi 1   VIAFID ORCID Logo 

1  Jichi Medical University, Division of Pediatrics, Tochigi, Japan (GRID:grid.410804.9) (ISNI:0000000123090000) 
2  Fukushima Medical University School of Medicine, Department of Pediatrics, Fukushima, Japan (GRID:grid.411582.b) (ISNI:0000 0001 1017 9540) 
3  Chiba Children’s Hospital, Center for Medical Genetics, Department of Metabolism, Chiba, Japan (GRID:grid.411321.4) (ISNI:0000 0004 0632 2959) 
4  Juntendo University, Diagnostics and Therapeutics of Interactable Diseases, Interactable Disease Research Center, Graduate School of Medicine, Tokyo, Japan (GRID:grid.258269.2) (ISNI:0000 0004 1762 2738) 
Pages
35
Publication year
2022
Publication date
2022
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-022-00210-z
ProQuest document ID
2719248443
Copyright
© The Author(s) 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.