Genetic defect of the sodium‐dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency

The sodium‐dependent multivitamin transporter that facilitates the uptake of the water‐soluble vitamins biotin, pantothenic acid, and the vitamin‐like substance lipoate is coded by the SLC5A6 gene. Variants in this gene cause a relatively novel treatable metabolic disorder. Here we describe the seco...

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Bibliografiske detaljer
Udgivet i:JIMD Rep
Main Authors: Schwantje, Marit, de Sain‐van der Velden, Monique, Jans, Judith, van Gassen, Koen, Dorrepaal, Charlotte, Koop, Klaas, Visser, Gepke
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2019
Fag:
Case Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6606985/
https://ncbi.nlm.nih.gov/pubmed/31392107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12040
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