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Article

Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development.

Frontiers in endocrinology - 1 Jan 2021

van Geest Ferdy S, Gunhanlar Nilhan, Groeneweg Stefan, Visser W Edward

Abstract excerpt

Genetic defects in the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) result in MCT8 deficiency. This disorder is characterized by a combination of severe intellectual and motor disability, caused by decreased cerebral thyroid hormone signalling, and a chronic thyrotoxic state in peripheral tissues, caused by exposure to elevated serum T3 concentrations. In particular, MCT8 plays a crucial role...

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Identifiers

PMID: 34539576
DOI: 10.3389/fendo.2021.723750
PMCID: PMC8440930

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