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Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

13 May 2020

Abstract excerpt

Monocarboxylate transporter 8 (MCT8) deficiency or the Allan-Herndon-Dudley Syndrome (AHDS) is an X-linked psychomotor disability syndrome with around 320 clinical cases described worldwide. SLC16A2 gene mutations, encoding the thyroid hormone (TH) transporter MCT8, result in intellectual disability due to impaired TH uptake in the developing brain. MCT8 deficiency is a multi-organ affecting disease with a...

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PMID: 32477268
DOI: 10.3389/fendo.2020.00283

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