Human Genome Variation (Sep 2022)

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
https://doi.org/10.1038/s41439-022-00210-z
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 3

Abstract

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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.