A Japanese patient with neonatal biotin-responsive basal ganglia disease.
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
29 Sep 2022
29 Sep 2022
Historique:
received:
12
10
2021
accepted:
03
08
2022
revised:
03
08
2022
entrez:
29
9
2022
pubmed:
30
9
2022
medline:
30
9
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36175418
doi: 10.1038/s41439-022-00210-z
pii: 10.1038/s41439-022-00210-z
pmc: PMC9522647
doi:
Types de publication
Journal Article
Langues
eng
Pagination
35Subventions
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : 21ek0109468,19ek0109273
Informations de copyright
© 2022. The Author(s).
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