MCT8-Specific Thyroid Hormone Cell Transporter Deficiency

Disease Overview

MCT8-specific thyroid hormone cell transporter deficiency (MCT8 deficiency) is a genetic disorder characterized by severe neurologic and developmental delays and specific thyroid test abnormalities. Affected individuals can have a wide range of other signs and symptoms due to chronic peripheral thyrotoxicosis, a condition that occurs when the body has too much thyroid hormone in the blood.

Except for poor muscle tone (hypotonia), most affected infants appear to develop normally during the first months of life. However, by about two months of age, an affected infant may seem weak and be unable to hold up their head. Due to hypotonia, severely reduced motor development and other abnormalities, these children very rarely develop the ability to walk and when they do, it is with a shuffling gait. Associated features often include underdevelopment (hypoplasia) and decreasing (atrophy) of muscle tissue; weakness and stiffness of the legs (spastic paraplegia) with exaggerated reflexes (hyperreflexia) and relatively slow, involuntary, purposeless (dyskinetic) movements. Writhing movements (athetoid movements) and/or other movement abnormalities are less common. Affected individuals may also have characteristic features of the skull and face.

MCT8 deficiency is caused by variants in the MCT8 (SLC16A2) gene. The variants in the SLC16A2 gene cause reduced or absent thyroid hormone uptake into the brain, resulting in altered neural development and myelination. However, because thyroid hormones can enter cells in the rest of the body independent of MCT8, affected individuals also have signs and symptoms of peripheral hyperthyroidism, including a faster-than-normal heart rate (tachycardia) and altered metabolism.

MCT8 deficiency is inherited as an X-linked genetic disorder. Diagnosis is based on the signs and symptoms and characteristic thyroid hormone profile, and it is confirmed with genetic testing.

This condition is very severe, and debilitating and symptoms are progressive. Current treatment is focused on treatment of symptoms but there is ongoing research to find a specific treatment.

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Synonyms

• AHDS
• Allan-Herndon-Dudley syndrome
• MCT8 deficiency
• THCT deficiency

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Signs & Symptoms

The signs and symptoms can be divided into two distinct but connected sets, neurodevelopmental issues due to low thyroid hormones in the brain which lead to intellectual disability and motor delays, and peripheral thyroid disease-related symptoms caused by high thyroid hormones in other parts of the body, resulting in increased metabolism, weight issues and heart problems.

Neurodevelopmental symptoms may include:

• Severe and persistent intellectual disability that includes significant challenges in learning, understanding and performing daily tasks
• Psychomotor delays such as delayed ability to develop skills requiring mental and physical coordination like sitting, crawling and grasping objects
• Speech difficulties with most children being unable to speak or developing only limited and unclear speech
• Movement abnormalities such as slow, twisting, and involuntary movements (athetoid movements) and dyskinetic attacks such as sudden episodes of muscle extension, limb movement and mouth opening
  • These brief episodes, triggered by physical or emotional stimuli, may mimic seizures but are not epilepsy
• Seizures (epilepsy) that can be difficult to treat
• Muscle tone problems such as low muscle tone (hypotonia) that may appear as:
  • weak neck muscles (limber neck) and mixed muscle tone
  • weakness in the torso (axial hypotonia)
• Stiffness in the legs (spastic paraplegia) with exaggerated reflexes (hyperreflexia)
• Rapid, repeated leg movements (clonus)
• Inability to walk or walking with great difficulty

While some affected children may present with irritability, many have a good-natured personality with a cheerful and pleasant disposition.

In addition to affecting the brain, MCT8 deficiency causes an excess of thyroid hormones (T3) in other parts of the body (peripheral thyroid disease-related symptoms) leading to:

• Increased metabolism (hypermetabolism) in which the body burns more calories than usual, making it difficult for children to gain weight, even with adequate nutrition
• Poor growth and difficulty maintaining a healthy weight (failure to thrive)
• Heart problems due to excessive amounts of thyroid hormones that can strain the heart, potentially leading to issues such as irregular heartbeat (arrhythmia), a faster-than-normal heart rate (tachycardia) and high blood pressure (arterial hypertension)
• Muscle problems including poor muscle development (hypoplasia) and loss (atrophy) and weakness and stiffness in muscles used for voluntary movement
• Sleep disturbances with difficulty sleeping or disrupted sleep patterns caused by hormonal imbalances
• Sweating
• Recurrent pulmonary infections

Children with MCT8 deficiency may also have physical features and structural abnormalities:

• Facial features:
  • Narrowing at the temples (bitemporal narrowing)
  • A long, thin face and large, underdeveloped ears
• Skeletal abnormalities:
  • Curvature of the spine (scoliosis)
  • Sunken chest (pectus excavatum)
  • Foot abnormalities

As children with MCT8 deficiency grow older, some symptoms may change or worsen including:

• Generalized muscle loss (atrophy) where muscles may shrink and weaken over time
• Joint contractures with permanent stiffness in joints that make movement more difficult
• Decreased reflexes (hyporeflexia)

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Causes

MCT8 deficiency is a rare genetic condition caused by changes (pathogenic variants) in the MCT8 (SLC16A2) gene. This gene provides instructions for making the MCT8 protein which plays an essential role in transporting thyroid hormones into and out of the brain. To date, over 210 different MCT8 gene variants have been identified in patients with MCT8 deficiency, and the severity of symptoms can vary depending on the type of variant.

MCT8 is the only protein responsible for transporting thyroid hormones (T3 and T4) into the brain. These hormones are essential for brain development, especially during pregnancy and early childhood. The abnormal protein cannot transport enough thyroid hormones into the brain, leading to low T3 and T4 levels in the central nervous system (CNS). This shortage disrupts brain development, especially during critical early years.

Outside the brain, other proteins help move thyroid hormones in and out of cells. However, the loss of MCT8 function can cause unique problems, such as decreased T4 secretion by the thyroid gland, increased T4 trapping in the kidneys and elevated T3 levels in the blood, leading to hypermetabolism (increased calorie usage) and difficulty gaining weight.

Thus, MCT8 deficiency results in two contrasting sets of thyroid-related symptoms:

• Central hypothyroidism (low thyroid hormone levels in the brain) causing neurodevelopmental delays
• Peripheral hyperthyroidism (high T3 levels in the blood) causing increased metabolism and other organ-related symptoms

Because most brain development occurs during pregnancy and the first three years of life, early diagnosis and treatment during this critical period can help reduce the severity of neurodevelopmental and cognitive issues caused by MCT8 deficiency.

Inheritance

MCT8 deficiency is inherited as an X-linked genetic condition. X-linked genetic disorders are conditions caused by a disease-causing gene variant on the X chromosome and mostly affect males. Females who have a disease-causing gene variant on one of their X chromosomes are carriers for that disorder. Carrier females usually do not have symptoms because females have two X chromosomes and only one carries the gene variant. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a disease-causing gene variant, he will develop the disease.

Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son.

If a male with an X-linked disorder can reproduce, he will pass the gene variant to all his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male children. 

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Affected populations

MCT8 deficiency is a rare inherited disorder that affects mostly males. More than 300 families have been identified with 210 different MCT8 gene variants. The frequency of MCT8 deficiency among people with intellectual disability is not known, though estimated to occur in 1 in 70,000 newborns.

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Disorders with Similar Symptoms

Symptoms of the following disorders may be similar to those of MCT8 deficiency. Comparisons may be useful for a differential diagnosis:

Angelman syndrome (AS) is a rare genetic neurological disorder characterized by severe developmental delays and learning disabilities; the absence or near absence of speech; an inability to coordinate voluntary movements (ataxia) and tremulous, jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling, often at inappropriate times. Additional symptoms may occur in some patients including seizures, sleep disorders and feeding difficulties. Some affected children may have distinctive facial features. AS is caused by deletion of or abnormal expression of the UBE3A gene. Most cases of AS are not inherited and appear to occur spontaneously.

Turner type X-linked syndromic intellectual developmental disorder is a rare neurologic and developmental disorder with many different signs and symptoms. Affected people show developmental delays from infancy, with intellectual disability, poor or absent speech and delayed walking. This condition is caused by changes (pathogenic variants) in the HUWE1 gene. Inheritance can be X-linked recessive or X-linked dominant.

Renpenning syndrome is one of the X-linked intellectual disability disorders that mostly affects males. It is characterized by intellectual disability that can be severe, short stature, a small head circumference (microcephaly) and small testes. Renpenning syndrome is caused by variants in the PQBP1 gene and is inherited in an X-linked pattern.

L1 syndrome is a genetic condition occurring in males that usually includes hydrocephalus, intellectual disability, spasticity of legs and clasped (adducted) thumbs. L1 syndrome is caused by variants in the L1CAM gene. The variable types of L1 syndrome were once thought to be different diseases, but all the following conditions are now known to be caused by variants in the L1CAM gene:

X-linked hydrocephalus with stenosis of aqueduct of Sylvius (HSAS) is characterized by severe hydrocephalus that often begins prenatally, adducted (clasped) thumbs, spasticity and severe intellectual disability. HASA syndrome is characterized by mild to moderate intellectual disability, aphasia (delayed speech), hypotonia that progresses to spasticity, adducted thumbs and variable widening of the third ventricle in the brain. X-linked complicated hereditary spastic paraplegia type 1 is characterized by spastic paraplegia (shuffling gait), mild to moderate intellectual disability and normal findings on MRI of the brain. X-linked complicated corpus callosum agenesis is characterized by variable spastic paraplegia, mild to moderate intellectual disability and abnormalities in the corpus callosum of the brain.

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked genetic disorder affecting the central nervous system that is associated with abnormalities of the white matter of the brain. Symptoms develop due to lack of fatty covering of nerve cells (myelin sheath). Many areas of the central nervous system may be affected, including the deep portions of the cerebrum (subcortical), cerebellum and/or brain stem. Symptoms may include the impaired ability to coordinate movement (ataxia), involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs, delays in reaching developmental milestones, loss of motor abilities and the slow progressive deterioration of intellectual function. PMD disease is associated with variants in the PLP1 gene. Some individuals with MCT8 deficiency have been incorrectly diagnosed as having PMD.

There are additional congenital disorders that may be characterized by X-linked intellectual disability and occur in association with movement abnormalities, psychomotor delay and/or other features similar to those associated with MCT8 deficiency. (For more information on these disorders, choose the exact disease name in question as your search term in the Rare Disease Database).

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Diagnosis

An early diagnosis of MCT8 deficiency is essential to provide the affected child with supportive care that can greatly enhance the quality of life of patients and caregivers.

A diagnosis of MCT8 deficiency may be suspected based on a combination of clinical signs and symptoms and the characteristic thyroid hormone profile. A diagnosis of MCT8 deficiency is confirmed by the identification of a pathogenic variant in the MCT8 (SLC16A2) gene.

A diagnosis of MCT8 deficiency may be suspected in a baby with low muscle tone (hypotonia) and poor head control that causes the head to droop (limber neck). However, hypotonia and muscle weakness may be the only obvious symptoms during early infancy and other symptoms such as dyskinetic attacks and spastic paraplegia may not become apparent until later. Therefore, the disorder may not be diagnosed until childhood when movement disorders, craniofacial features (including long narrow face, open mouth, tented lip and ear abnormalities), brain imaging abnormalities (including delayed myelination) and cardiac arrhythmia or tachycardia become more evident and support a potential diagnosis of MCT8 deficiency.

Thyroid hormone testing is necessary to determine if MCT8 deficiency is a possible diagnosis. The diagnostic thyroid hormone “fingerprint” profile includes elevated triiodothyronines (T3) levels in the blood with low T4 and normal to mildly elevated TSH results. However, this characteristic thyroid hormone profile is for children older than 4 months. In newborns, T3 is not elevated but reverse T3 is low. Therefore, for earlier diagnosis, if results show elevated T3 and reduced reverse T3 levels in blood, genetic testing for MCT8 (SLC16A2) gene variants is indicated.

If whole genome or whole exome sequencing is used, it is important to ensure that the MCT8 gene is analyzed and reported. Similarly, gene panels used to screen for developmental delay or thyroid hormone-related disorders should include the MCT8 gene so a diagnosis of MCT8 deficiency is possible.

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Standard Therapies

Treatment
The treatment of MCT8 deficiency is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, neurologists, specialists who assess and treat skeletal abnormalities (orthopedists), speech-language pathologists, physical therapists and/or other health care professionals may need to plan an affected child’s treatment systematically and comprehensively.

Specific therapies for the treatment of MCT8 deficiency are symptomatic and supportive. Affected individuals who have scoliosis may be treated with orthopedic braces, physical therapy and/or other orthopedic measures. When abnormal depression of the breastbone (pectus excavatum) is present, corrective surgery may be recommended in some patients.

Early intervention is important to ensure that children with MCT8 deficiency reach their potential. Special services that may be beneficial include special remedial education, special social support, physical therapy and/or other medical, social and/or vocational services.

Genetic counseling is recommended for affected individuals and their families.

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Clinical Trials and Studies

The combined use of propylthiouracil (PTU) and L-thyroxine (L-T4) has been proposed as a possible treatment to improve the nutritional status of affected patients. Both are approved drugs used to treat thyroid diseases. For patients with MCT8 deficiency, L-T4 provides a thyroid hormone more readily available to the brain. PTU reduces T3 in peripheral tissue, thus decreasing hypermetabolism.

Several treatments are actively being tested or are undergoing trials: (1) thyroid hormone analogues (TRIAC and DITPA) that reduce the hypermetabolism caused by the high T3 in blood but have no documented effect on neurodevelopment, (2) phenylbutyrate that moves MCT8 molecules to the cell membrane and might be effective in patients with gene variants that produce functional MCT8 protein but don’t reach the brain and (3) gene therapy that targets the brain to correct the neurodevelopmental abnormality but not the hypermetabolism. Gene therapy is undergoing active development but is several years away from trials in humans.

Tiratricol is furthest along in the developmental pathway as a targeted treatment for MCT8 deficiency. In October 2023, an EU marketing authorization application (MAA) for tiratricol (Emcitate) as a treatment for MCT8 deficiency was submitted and an application to the US FDA is anticipated soon.

Because MCT8 deficiency is an inherited condition, carrier testing of at-risk female relatives, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible, but only in families where an affected child has already been born. Some studies have emphasized the potential of prenatal molecular chaperone treatment, and a trial is underway to evaluate DITPA treatment of affected children in utero to determine if treating MCT8 deficiency before birth has a positive impact on fetal neurodevelopment.

Chaperones are small molecules that bind to misfolded proteins, helping them to fold correctly and reach their intended location within the cell. In a fetus with MCT8 deficiency, chaperones could potentially stabilize the altered MCT8 protein, allowing it to be transported to the cell membrane and function properly. However, it may only be effective for specific variants in the MCT8 gene that cause protein misfolding issues.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

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References

TEXTBOOKS
Bialer MG. Allan-Herndon-Dudley Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:149.

JOURNAL ARTICLES
Bauer AJ, Auble B, Clark AL, Hu TY, Isaza A, McNerney KP, Metzger DL, Nicol L, Pierce SR, Sidlow R. Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review. Front Pediatr. 2024 Jul 22;12:1444919. doi: 10.3389/fped.2024.1444919. PMID: 39132310; PMCID: PMC11310894.https://pmc.ncbi.nlm.nih.gov/articles/PMC11310894/

Park S, Shin Y, Seo GH, Hong YH.  Late-onset drug resistant epilepsy in an adolescent with Allan-Herndon-Dudley syndrome.  J Genet Med 2024;21:31-35.  https://doi.org/10.5734/JGM.2024.21.1.31

Groeneweg S, van Geest FS, Abacı A & cols. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Erratum in: Lancet Diabetes Endocrinol. 2022 Apr;10(4):e7. doi: 10.1016/S2213-8587(22)00082-1. PMID: 32559475; PMCID: PMC7611932. https://pmc.ncbi.nlm.nih.gov/articles/PMC7611932/

Olivati C, Favilla BP, Freitas EL, Santos B, Melaragno MI, Meloni VA, Piazzon F. Allan-Herndon-Dudley syndrome in a female patient and related mechanisms. Mol Genet Metab Rep. 2022 May 7;31:100879. doi: 10.1016/j.ymgmr.2022.100879. PMID: 35782622; PMCID: PMC9248228. https://pmc.ncbi.nlm.nih.gov/articles/PMC9248228/

Groeneweg S, van Geest FS, Abaci A, Alcantud A, Ambegaonkar GP, Armour CM, et al. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Lancet Diabetes Endocrinol. 2020;8(7):594-605.

Vatine GD, Al-Ahmad A, Barriga BK, Svendsen S, Salim A, Garcia L, et al. Modeling psychomotor retardation using iPSCs from MCT8-deficient patients indicates a prominent role for the blood-brain barrier. Cell Stem Cell. 2017;20(6):831-43 e5.

Capri Y, Friesema EC, Kersseboom S, Touraine R, Monnier A, Eymard-Pierre E, et al. Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation. Hum Mutat. 2013;34(7):1018-25.

Ceballos A, Belinchon MM, Sanchez-Mendoza E, et al. Importance of monocarboxylate transporter 8 (Mct8) for the blood-brain barrier dependent availability of 3,5,3′-triiodo-L-thyronine (T3). Endocrinology. 2009;150:2491-2496.

Wemeau JL. Pigeyre E, Proust-Lemoine, et al. Beneficial effects of Propylthioruracil plus L-thyroxine treatment in a patient with a mutation in MCT8. J Clin Endocrinol Metab. 2008;93(6):2084-2088.

Jansen J, Friesema EC, Kester MH, et al. Functional analysis of MCT8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. J Clin Endocrinol Metab. 2007;92(6):2378-81.

Friesema EC, Jansen J, Heuer H, et al. Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8. Nat Clin Pract Endocrinol Metab. 2006;2(9):512-23.

Maranduba CM, Friesema EC, Kok F, et al. Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. J Med Genet. 2006;43(5):457-60.

Schwartz CE, May MM, Carpenter NJ, et al. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet. 2005 ;77(1):41-53.

Holden KR, Zuniga OF, May MM, et al. X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol. 2005 Oct;20(10):852-7.

Dumitrescu AM, Liao X-H, Best TB, et al. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004;74:168-175.

INTERNET
McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:300523 Last Update: 07/01/2024. Available at: https://www.omim.org/entry/300523 Accessed Jan 8, 2025.

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Related Rare Diseases: Aarskog Syndrome, X-Linked Adrenoleukodystrophy, MCT8-Specific Thyroid Hormone Cell Transporter Deficiency, ...

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MCT8-AHDS Foundation

Related Rare Diseases: MCT8-Specific Thyroid Hormone Cell Transporter Deficiency, Deficiencia del transportador de células de hormona tiroidea específica de MCT8

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More Information

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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