A Japanese patient with neonatal biotin-responsive basal ganglia disease

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...

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Bibliographic Details
Main Authors: Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera, Ayako Matsunaga, Masakazu Kohda, Yasushi Okazaki, Kei Murayama, Takanori Yamagata, Hitoshi Osaka
Format: Article
Language:English
Published: Nature Publishing Group 2022-09-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-022-00210-z

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