ArticleCase reports in genetics2025
MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in
Article in Case reports in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation inCase reports in genetics · 2025Article
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6 authors.
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Abstract
Background: Monocarboxylate transporter 8 (MCT8) deficiency, also known as Allan-Herndon-Dudley syndrome, is a rare X-linked genetic disorder resulting from pathogenic mutations in the Case Presentation: This case report describes the diagnostic journey of two brothers born 1 year and 8 months apart to nonconsanguineous parents. Both exhibited severely limited motor development, quadriparesis, and an inability to sit independently or hold their head up. Despite their significant clinical presentations, the diagnoses were delayed: 12 years and 8 months for Case 1 and 8 years and 3 months for Case 2. Genetic testing revealed that both patients carry the same novel Conclusions: Findings from this case report highlight the need for greater awareness of this disorder and underscore the clinical heterogeneity of MCT8 deficiency.
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