Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine

Abstract Gamma-butyrobetaine hydroxylase (BBOX1) catalyses the last step of carnitine biosynthesis, converting γ-butyrobetaine (γ-BB) into L-carnitine. Here we show, for the first time, that biallelic variants in BBOX1 are associated with decreased levels of L-carnitine and increased plasma levels o...

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Библиографические подробности

Главные авторы:	Xiao Li, Mehdi Yeganeh, Graham Sinclair, Jill Mwenifumbo, Karen J. Jacob, Laura Arbour, Anna Lehman, Bojana Rakic, Frédéric M. Vaz, Gabriella Horvath, Maja Tarailo-Graovac, Sylvia Stockler-Ipsiroglu
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Nature Portfolio 2025-09-01
Серии:	npj Genomic Medicine
Online-ссылка:	https://doi.org/10.1038/s41525-025-00523-2
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