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...

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Shu, Zhang, Ye, Deng, Zhi, He, Hui, Zheng, Xianhua, Hong, Qingshan, Luo, Xianqiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10299609/
https://www.ncbi.nlm.nih.gov/pubmed/37373384
http://dx.doi.org/10.3390/ijms241210239

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10299609/
https://www.ncbi.nlm.nih.gov/pubmed/37373384
http://dx.doi.org/10.3390/ijms241210239

Ejemplares similares