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Article

Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutations.

Hormone research in paediatrics - 1 Jan 2015

Kim Ja Hye, Kim Yoo-Mi, Yum Mi-Sun, Choi Jin-Ho, Lee Beom Hee, Kim Gu-Hwan, Yoo Han-Wook

Abstract excerpt

The monocarboxylate transporter 8 (MCT8) gene, located on chromosome Xq13.2, encodes a thyroid hormone transporter that is involved in triiodothyronine (T3) uptake into central neurons. MCT8 mutations cause an X-linked syndromic disorder known as Allan-Herndon-Dudley syndrome (AHDS) that is characterized by severe psychomotor delays, abnormal thyroid function, and hypomyelinated leukodystrophies. We identified 2...

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PMID: 25896225
DOI: 10.1159/000371466

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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