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Article

[MCT8-specific thyroid hormone cell transporter deficiency: a case report and review of the literature].

Revista de neurologia - 16 Jun 2013

López-Marín Laura, Martín-Belinchón Mónica, Gutiérrez-Solana Luis G, Morte-Molina Beatriz, Duat-Rodríguez Anna, Bernal Juan

Abstract excerpt

INTRODUCTION: MCT8 is a specific transporter for the T4 and T3 thyroid hormones that allows their entry in the brain and other organs. Mutations in MCT8 (Allan-Herndon-Dudley syndrome) lead to a severe form of X-linked psychomotor retardation, which is characterised by elevated plasma T3 and low T4. AIM: We describe the first case diagnosed in Spain with this syndrome and review the published literature about...

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Identifiers

PMID: 23744248

Genes

PLP1

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[MCT8-specific thyroid hormone cell transporter deficiency: a case report and review of the literature].PMID 23744248Read ↗

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Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation.Semantic proximity Read ↗

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