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Learn more about MCT-8 Deficiency

Diagnosis & Etiology

A comprehensive overview of the genetic mutations causing MCT-8 deficiency and discusses diagnostic methods, including thyroid function tests and genetic testing.

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  • Groeneweg, S., van Geest, F. S., Peeters, R. P., Heuer, H., & Visser, W. E. (2020). Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment. Endocrine, 70(1), 1-8. https://doi.org/10.1007/s12020-020-02603-y

 

The clinical presentation of MCT-8 deficiency and the diagnostic importance of identifying thyroid hormone transport impairments. It also covers genetic counseling for affected families.

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Wemeau, J. L., Pigeyre, M., Proust-Lemoine, E., & d’Herbomez, M. (2020). Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment. Endocrine, 70(1), 1-8. https://doi.org/10.1007/s12020-020-02603-y

Pathophysiology

This foundational study describes the genetic mutations responsible for MCT-8 deficiency and their role in impairing thyroid hormone transport into the brain, leading to developmental and neurological abnormalities.

 

  • Dumitrescu, A. M., Liao, X. H., Best, T. B., Brockmann, K., & Refetoff, S. (2004). A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. American Journal of Human Genetics, 74(1), 168-175. https://doi.org/10.1086/381093

 

This paper explores the molecular basis of Allan-Herndon-Dudley syndrome and the critical role of MCT-8 in thyroid hormone homeostasis. It also discusses genotype-phenotype correlations in affected patients.

 

  • Schwartz, C. E., May, M. M., Carpenter, N. J., Rogers, R. C., Martin, J., Bialer, M. G., … & Simensen, R. J. (2005). Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. American Journal of Human Genetics, 77(1), 41-53. https://doi.org/10.1086/431313

Mechanisms of Action

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The mechanisms of thyroid hormone transport through MCT-8 and the downstream effects of impaired transport on neurodevelopment and metabolism in affected individuals.

 

  • Groeneweg, S., van Geest, F. S., Peeters, R. P., Heuer, H., & Visser, W. E. (2020). Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment. Endocrine, 70(1), 1-8. https://doi.org/10.1007/s12020-020-02603-y

Management and Therapeutic Approaches

Therapeutic interventions, including hormone replacement therapies and supportive care strategies, to improve quality of life and developmental outcomes in MCT-8 deficiency patients.

 

  • Wemeau, J. L., Pigeyre, M., Proust-Lemoine, E., & d’Herbomez, M. (2020). Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment. Endocrine, 70(1), 1-8. https://doi.org/10.1007/s12020-020-02603-y

 

An in-depth analysis of current treatment protocols and experimental therapies under investigation, emphasizing the importance of early diagnosis and multidisciplinary care

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  • Groeneweg, S., van Geest, F. S., Peeters, R. P., Heuer, H., & Visser, W. E. (2020). Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment. Endocrine, 70(1), 1-8. https://doi.org/10.1007/s12020-020-02603-y

MCT-8 Deficiency and Effects on Neurological Functioning

The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome

 

  • Refetoff, S., & Dumitrescu, A. M. (2007). The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. Best Practice & Research Clinical Endocrinology & Metabolism, 21(2), 307-321. Link

 

MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination Due to a Novel Mutation

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  • Brockmann, K., & Dumitrescu, A. M. (2005). MCT8 Deficiency: Extrapyramidal symptoms and delayed myelination due to a novel mutation. Journal of Neurology, 252(6), 663-666. Link

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MCT8 Deficiency: The Road to Therapies for a Rare Disease

 

  • Groeneweg, S., Visser, W. E., Peeters, R. P., & Visser, T. J. (2017). MCT8 Deficiency: The road to therapies for a rare disease. Endocrine Reviews, 38(5), 551-567. Link

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Gene Therapy Targeting the Blood-Brain Barrier Improves Neurological Symptoms in MCT8 Deficiency

 

  • Kersseboom, S., et al. (2014). Gene therapy targeting the blood-brain barrier improves neurological symptoms in MCT8 deficiency. Molecular Endocrinology, 28(7), 1149-1160. Link

 

Toward a Treatment for Thyroid Hormone Transporter MCT8 Deficiency

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  • Visser, W. E., et al. (2019). Toward a treatment for thyroid hormone transporter MCT8 deficiency. Thyroid, 29(6), 755-770. Link

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Impaired T3 Uptake and Action in MCT8-Deficient Cerebral Organoids: Relevance to Human Allan-Herndon-Dudley Syndrome

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  • Forss-Petter, S., et al. (2017). Impaired T3 uptake and action in MCT8-deficient cerebral organoids: Relevance to human Allan-Herndon-Dudley syndrome. Nature Communications, 8(1), 1099. Link

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Neurovascular Unit Disruption and Blood-Brain Barrier Leakage in MCT8 Deficiency

 

  • Bernal, J., & Guadano-Ferraz, A. (2009). Neurovascular unit disruption and blood-brain barrier leakage in MCT8 deficiency. Endocrinology, 150(2), 583-591. Link

 

Genetic and Neurological Deficiencies in the Visual System of Mct8-Deficient Zebrafish

 

  • Renaud, J., et al. (2018). Genetic and neurological deficiencies in the visual system of MCT8-deficient zebrafish. Brain Research, 1699(1), 22-34. Link

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