ReviewFrontiers in endocrinology2021
Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development.
Review in Frontiers in endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- Thyrotoxicosis in MCT8 deficiency.The Journal of clinical endocrinology and metabolism · 2026Review
- Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Thyroid hormones and metabolic flexibility: tissue-specific control of energy homeostasis.Frontiers in physiology · 2026Review
- Peripheral manifestations of monocarboxylate transporter 8 deficiency: hepatic and skeletal muscle involvement.Frontiers in pediatrics · 2026Review
- Article
- MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation inCase reports in genetics · 2025Article
- Toward a treatment for thyroid hormone transporter MCT8 deficiency - achievements and challenges.European thyroid journal · 2024Review
- Metabolic Messengers: Thyroid Hormones.Nature metabolism · 2024Review
- Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 DeficiencyJournal of clinical research in pediatric endocrinology · 2024Article
- Factors and Mechanisms of Thyroid Hormone Activity in the Brain: Possible Role in Recovery and Protection.Biomolecules · 2024Review
- Editorial: The role of thyroid hormones in vertebrate development, volume II.Frontiers in endocrinology · 2024Article
- Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review.Frontiers in pediatrics · 2024Review
- Article
- Role and Clinical Significance of Monocarboxylate Transporter 8 (MCT8) During Pregnancy.Reproductive sciences (Thousand Oaks, Calif.) · 2023Review
- Development and metamorphosis in frogs deficient in the thyroid hormone transporter MCT8.General and comparative endocrinology · 2023Article
- Application of oral inorganic iodine in the treatment of Graves' disease.Frontiers in endocrinology · 2023Review
- Genetic and Neurological Deficiencies in the Visual System ofInternational journal of molecular sciences · 2022Article
- Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of theFrontiers in pediatrics · 2022Article
- Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.Frontiers in endocrinology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic defects in the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) result in MCT8 deficiency. This disorder is characterized by a combination of severe intellectual and motor disability, caused by decreased cerebral thyroid hormone signalling, and a chronic thyrotoxic state in peripheral tissues, caused by exposure to elevated serum T3 concentrations. In particular, MCT8 plays a crucial role in the transport of thyroid hormone across the blood-brain-barrier. The life expectancy of patients with MCT8 deficiency is strongly impaired. Absence of head control and being underweight at a young age, which are considered proxies of the severity of the neurocognitive and peripheral phenotype, respectively, are associated with higher mortality rate. The thyroid hormone analogue triiodothyroacetic acid is able to effectively and safely ameliorate the peripheral thyrotoxicosis; its effect on the neurocognitive phenotype is currently under investigation. Other possible therapies are at a pre-clinical stage. This review provides an overview of the current understanding of the physiological role of MCT8 and the pathophysiology, key clinical characteristics and developing treatment options for MCT8 deficiency.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.