Allan-Herndon-Dudley syndrome

A rare, congenital X-linked dominant disorder characterized by INTELLECTUAL DISABILITY; COMMUNICATION DISORDERS; MUSCLE SPASTICITY; CONTRACTURES, hypotonia and loss of mobility. Various other anatomical and neurological abnormalities may also be present, as well as abnormal serum thyroid hormone levels. Mutations in the SLC16A2 gene have been identified. OMIM: 300523

Also Known As:

Allan-Herndon syndrome; Mct8 (Slc16a2)-Specific Thyroid Hormone Cell Transporter Deficiency; Mental Retardation, X-Linked, With Hypotonia; Mental retardation and muscular atrophy; Monocarboxylate Transporter 8 (Mct8) Deficiency; Monocarboxylate Transporter 8 Deficiency; Monocarboxylate transporter-8 deficiency; T3 Resistance; Triiodothyronine Resistance; X-linked mental retardation with hypotonia

Networked: 81 relevant articles (1 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Intellectual Disability (Idiocy)
2.	Muscle Hypotonia (Hypotonia)
3.	Rare Diseases (Rare Disease)
4.	Paraplegia (Spastic Paraplegia)
5.	Neurodevelopmental Disorders

Experts

1.	Schweizer, Ulrich: 8 articles (01/2022 - 01/2010)
2.	Visser, Theo J: 7 articles (01/2019 - 01/2010)
3.	Heuer, Heike: 6 articles (01/2022 - 02/2010)
4.	Braun, Doreen: 5 articles (01/2022 - 01/2010)
5.	Wirth, Eva K: 5 articles (01/2020 - 01/2010)
6.	Köhrle, Josef: 5 articles (07/2016 - 09/2010)
7.	Bernal, Juan: 5 articles (10/2014 - 04/2011)
8.	Dumitrescu, Alexandra M: 4 articles (01/2022 - 07/2013)
9.	Refetoff, Samuel: 4 articles (01/2022 - 07/2013)
10.	Visser, W Edward: 4 articles (01/2021 - 01/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Allan-Herndon-Dudley syndrome:

1.	Thyroid HormonesIBA 06/01/2020 - "Despite its first description more than 75 years ago, effective treatment for "Allan-Herndon-Dudley-Syndrome (AHDS)", an X-linked thyroid hormone transporter defect, is unavailable. " 12/01/2019 - "The aim of the study was to redefine the phenotype of Allan-Herndon-Dudley syndrome (AHDS), which is caused by mutations in the SLC16A2 gene that encodes the brain transporter of thyroid hormones. " 11/21/2023 - "The X-linked Allan-Herndon-Dudley syndrome (AHDS) is characterized by severely impaired psychomotor development and is caused by mutations in the SLC16A2 gene encoding the thyroid hormone transporter MCT8 (monocarboxylate transporter 8). " 12/08/2022 - "Dysfunctions of the thyroid hormone (TH) transporting monocarboxylate transporter MCT8 lead to a complex X-linked syndrome with abnormal serum TH concentrations and prominent neuropsychiatric symptoms (Allan-Herndon-Dudley syndrome, AHDS). " 12/01/2022 - "Mutations of the monocarboxylate transporter 8 (MCT8) cause the Allan-Herndon-Dudley syndrome, with altered thyroid hormone concentrations in the blood and profound neurological impairment and intellectual deficit. "
2.	Proteins (Proteins, Gene)FDA Link 10/01/2018 - "Molecular docking studies of human MCT8 protein with soy isoflavones in Allan-Herndon-Dudley syndrome (AHDS)." 01/01/2018 - "We describe 4 male siblings affected with Allan-Herndon-Dudley syndrome with a novel nonsense mutation (Q90X) in the MCT8 protein. "
3.	Metformin (Glucophage)FDA LinkGeneric 07/21/2021 - "We also conducted an in vitro study to investigate the possible mechanisms of T3 resistance, assessing T3-induced Akt phosphorylation among normal (5 mM) and high (25 mM) glucose levels with or without metformin treatment in a human embryonal kidney cell line. "
4.	IsoflavonesIBA 10/01/2018 - "Molecular docking studies of human MCT8 protein with soy isoflavones in Allan-Herndon-Dudley syndrome (AHDS)."
5.	Glucose (Dextrose)FDA LinkGeneric 07/21/2021 - "We also conducted an in vitro study to investigate the possible mechanisms of T3 resistance, assessing T3-induced Akt phosphorylation among normal (5 mM) and high (25 mM) glucose levels with or without metformin treatment in a human embryonal kidney cell line. "
6.	Triiodothyronine (Liothyronine)FDA LinkGeneric 07/27/2023 - "In addition, we have innovated total triiodothyronine (T3) resistance index (TT3RI) and TFQIFT3 indexes based on FT3 and TSH. " 11/01/2022 - "Monocarboxylate transporter 8 (MCT8) deficiency is an X-linked recessive developmental disorder characterized by initially marked truncal hypotonia, later athetotic posturing, and severe intellectual disability caused by mutations in SLC16A2, which is responsible for the transport of triiodothyronine (T3) into neurons. " 01/01/2021 - "Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency." 10/01/2011 - "Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy." 10/04/2014 - "MCT8 is a specific transporter of triiodothyronine (T3) hormone and MCT8 gene mutations cause a rare X-linked disorder named MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome, characterized by psychomotor retardation and hypotonia. "
7.	Thyroxine (Levothyroxine)FDA LinkGeneric 10/01/2011 - "Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy." 10/01/2023 - "TSH index (TSHI), thyrotrophin T4/T3 resistance index (TT4RI/TT3RI), Thyroid feedback quantile-based index (TFQI), Parametric TFQI (PTFQI), free triiodothyronine to free thyroxine ratio (FT3/FT4), the secretory capacity of the thyroid gland (SPINA-GT) and the sum activity of peripheral deiodinases (SPINA-GD) were calculated. " 01/01/2023 - "Free triiodothyronine to free thyroxine ratio (FT3/FT4), thyrotropin triiodothyronine resistance index (TT3RI), thyrotropin thyroxine resistance index (TT4RI), thyroid stimulating hormone index (TSHI) and thyroid feedback quantile-based indices (TFQIFT3 and TFQIFT4) were collected as sensitivity indicators to THs. "
8.	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 01/01/2023 - "In patients with T2DM, levels of thyroid stimulating hormone (TSH), Thyroid feedback quantile-based index (TFQIFT3) calculated using FT3 and TSH, thyrotroph T3 resistance index (TT3RI) and thyrotroph T4 resistance index (TT4RI) were significantly higher in subjects with MAFLD. " 10/01/2023 - "TSH index (TSHI), thyrotrophin T4/T3 resistance index (TT4RI/TT3RI), Thyroid feedback quantile-based index (TFQI), Parametric TFQI (PTFQI), free triiodothyronine to free thyroxine ratio (FT3/FT4), the secretory capacity of the thyroid gland (SPINA-GT) and the sum activity of peripheral deiodinases (SPINA-GD) were calculated. " 01/01/2023 - "Free triiodothyronine to free thyroxine ratio (FT3/FT4), thyrotropin triiodothyronine resistance index (TT3RI), thyrotropin thyroxine resistance index (TT4RI), thyroid stimulating hormone index (TSHI) and thyroid feedback quantile-based indices (TFQIFT3 and TFQIFT4) were collected as sensitivity indicators to THs. "
9.	Carrier Proteins (Binding Protein)IBA 09/03/2010 - "Monocarboxylate transporter 8 (MCT8, SLC16A2) is a thyroid hormone (TH) transmembrane transport protein mutated in Allan-Herndon-Dudley syndrome, a severe X-linked psychomotor retardation. " 06/30/2010 - "Monocarboxylate transporter 8 (MCT8) is a plasma membrane thyroid hormone transport protein, which has recently gained much attention, since mutations in MCT8 are associated with severe mental retardation in patients afflicted with the Allan-Herndon-Dudley syndrome. " 01/01/2010 - "Mutations in a thyroid hormone transmembrane transport protein, monocarboxylate transporter 8 (MCT8), underlie one of the first described X-linked mental retardation syndromes, the Allan-Herndon-Dudley syndrome. "
10.	3,3',5-triiodothyroacetic acid (Triac)IBA 01/01/2019 - "Triac in the treatment of Allan-Herndon-Dudley syndrome." 01/01/2023 - "Intracerebroventricular High Doses of 3,3',5-Triiodothyroacetic Acid at Juvenile Stages Improve Peripheral Hyperthyroidism and Mediate Thyromimetic Effects in Limited Brain Regions in a Mouse Model of Monocarboxylate Transporter 8 Deficiency." 01/01/2020 - "3,5,3'-triiodothyroacetic acid has already found clinical use in the treatment of some cases of TH resistance due to TRβ mutations, and interesting results have recently been reported in patients with the Allan-Herndon-Dudley syndrome, a rare disease caused by mutations in the TH transporter MCT8. "

Therapies and Procedures

1.	Therapeutics 01/01/2021 - "Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development." 10/01/2015 - "Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies."
2.	Caloric Restriction 02/02/1980 - "Some obese patients who do not readily lose weight on conventional low-calorie diets may have an impaired metabolic clearance rate of T3 and a degree of T3 resistance."
3.	Thyroidectomy 10/01/2011 - "Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy."