Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review

Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review

Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked disorder arising from mutations in the SLC16A2 gene and resulting from dysfunctional thyroid hormone transport. This disorder is characterized by profound neurodevelopmental delay and motor disability due to a lack of thyroid hormon...

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Bibliographic Details
Main Authors: Andrew J. Bauer, Bethany Auble, Amy L. Clark, Tina Y. Hu, Amber Isaza, Kyle P. McNerney, Daniel L. Metzger, Lindsey Nicol, Samuel R. Pierce, Richard Sidlow
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-07-01
Series:Frontiers in Pediatrics
Subjects:
MCT8 deficiency
MCT8
Allan-Herndon-Dudley syndrome
AHDS
developmental delay
T3
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1444919/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2024.1444919/full

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