Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking

Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking

Biotinidase (BTD) deficiency (OMIM 253260) is an autosomal recessively inherited metabolic disorder resulting from deficient activity of the BTD enzyme, which can cleave and release biotin from a variety of biotin-dependent carboxylases, and is therefore recognized as a tool to recycle biotin. Being...

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Bibliographic Details
Main Authors: Shu Liu, Ye Zhang, Zhi Deng, Hui He, Xianhua Zheng, Qingshan Hong, Xianqiong Luo
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:International Journal of Molecular Sciences
Subjects:
biotinidase deficiency
<i>BTD</i> gene
novel variant
organic aciduria
biotin treatment
Online Access:https://www.mdpi.com/1422-0067/24/12/10239

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