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Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan-Herndon-Dudley Syndrome.

Movement disorders clinical practice - 1 May 2024

Ramon-Gomez Jorge Luis, Cortés-Rojas Maria Camila, Polania-Puentes Maria Jose, Guerrero-Ruiz Graciela Del Pilar

Abstract excerpt

BACKGROUND: Deficiencies in the thyroid hormone transporter monocarboxylate 8 (MCT8) due to pathogenic variants in the SLC16A2 gene (OMIM 300095) result in a complex phenotype with main endocrine and neurologic symptoms. This rare disorder, named Allan-Herndon-Dudley syndrome (AHDS) (OMIM 300523), is inherited in an X-linked trait. One of the prominent features of AHDS is the presence of movement disorders (MD),...

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Identifiers

PMID: 38454300
DOI: 10.1002/mdc3.14009
PMCID: PMC11078483

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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