A Japanese patient with neonatal biotin-responsive basal ganglia disease

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 thiami...

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Veröffentlicht in:	Human genome variation 2022-09, Vol.9 (1), p.35-35, Article 35
Hauptverfasser:	Kobayashi, Mizuki, Suzuki, Yuichi, Nodera, Maki, Matsunaga, Ayako, Kohda, Masakazu, Okazaki, Yasushi, Murayama, Kei, Yamagata, Takanori, Osaka, Hitoshi
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208 631/378 Acids Basal ganglia Biomedical and Life Sciences Biomedicine Biotin Consciousness Data Report Disease Encephalopathy Families & family life Gene Expression Gene Function Gene Therapy Genetic screening Genomes Genotype & phenotype Human Genetics Magnetic resonance imaging Metabolism Molecular Medicine Mutation Neonates Ostomy Pediatrics Vitamin B
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Zusammenfassung:	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.
ISSN:	2054-345X 2054-345X
DOI:	10.1038/s41439-022-00210-z