A Japanese patient with neonatal biotin-responsive basal ganglia disease

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

doi:10.1038/s41439-022-00210-z

A Japanese patient with neonatal biotin-responsive basal ganglia disease

Hum Genome Var. 2022 Sep 29;9(1):35. doi: 10.1038/s41439-022-00210-z.

Authors

Affiliations

¹ Division of Pediatrics, Jichi Medical University, Tochigi, Japan.
² Department of Pediatrics, Fukushima Medical University School of Medicine, Fukushima, Japan.
³ Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
⁴ Diagnostics and Therapeutics of Interactable Diseases, Interactable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
⁵ Division of Pediatrics, Jichi Medical University, Tochigi, Japan. hosaka@jichi.ac.jp.

^# Contributed equally.

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.

Grants and funding

21ek0109468,19ek0109273/Japan Agency for Medical Research and Development (AMED)