Allan-Herndon-Dudley Syndrome

Common Name(s)

Allan-Herndon-Dudley Syndrome, MCT8-specific Thyroid Hormone Cell Transporter Deficiency

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Allan-Herndon-Dudley Syndrome" for support, advocacy or research.

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mct8.org

Bring together families for a support base to share information and resources for a better way of life for those who have loved ones affected by the disorder.

http://www.mct8organization.org

Last Updated: 26 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Allan-Herndon-Dudley Syndrome" for support, advocacy or research.

Logo
mct8.org

Bring together families for a support base to share information and resources for a better way of life for those who have loved ones affected by the disorder.

http://www.mct8organization.org

Last Updated: 26 Mar 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Allan-Herndon-Dudley Syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.
 

Author(s): Eva K Wirth, Stephan Roth, Cristiane Blechschmidt, Sabine M Hölter, Lore Becker, Ildiko Racz, Andreas Zimmer, Thomas Klopstock, Valerie Gailus-Durner, Helmut Fuchs, Wolfgang Wurst, Thomas Naumann, Anja Bräuer, Martin Hrabé de Angelis, Josef Köhrle, Annette Grüters, Ulrich Schweizer

Journal: J. Neurosci.. 2009 Jul;29(30):9439-49.

 

Thyroid hormone transport into cells requires plasma membrane transport proteins. Mutations in one of these, monocarboxylate transporter 8 (MCT8), have been identified as underlying cause for the Allan-Herndon-Dudley syndrome, an X-linked mental retardation in which the patients also ...

Last Updated: 30 Jul 2009

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MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
 

Author(s): Suzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, Lars Riff Jensen, Hilde Van Esch, Vincent des Portes, Ute Moog, Merryn Victor Erik Macville, Kees van Roozendaal, Constance Theresia Rimbertha Maria Schrander-Stumpel, Andreas Tzschach, Peter Marynen, Jean-Pierre Fryns, Ben Hamel, Hans van Bokhoven, Jamel Chelly, Chérif Beldjord, Gillian Turner, Jozef Gecz, Claude Moraine, Martine Raynaud, Hans Hilger Ropers, Guy Froyen, Andreas Walter Kuss

Journal: Eur. J. Hum. Genet.. 2008 Sep;16(9):1029-37.

 

Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the Allan-Herndon-Dudley syndrome (AHDS). We performed MCT8 mutation analysis including 13 XLMR families ...

Last Updated: 22 Aug 2008

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Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.
 

Author(s): C M C Maranduba, E C H Friesema, F Kok, M H A Kester, J Jansen, A L Sertié, M R Passos-Bueno, T J Visser

Journal: J. Med. Genet.. 2006 May;43(5):457-60.

 

We report a novel 1 bp deletion (c.1834delC) in the MCT8 gene in a large Brazilian family with Allan-Herndon-Dudley syndrome (AHDS), an X linked condition characterised by severe mental retardation and neurological dysfunction. The c.1834delC segregates with the disease in this family ...

Last Updated: 1 May 2006

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Allan-Herndon-Dudley Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

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

Author(s): Charles E Schwartz, Roger E Stevenson

Journal: Best Pract. Res. Clin. Endocrinol. Metab.. 2007 Jun;21(2):307-21.

 

Thyroid hormone is essential for the proper development and function of the brain. The active form of thyroid hormone is T(3), which binds to nuclear receptors. Recently, a transporter specific for T(3), MCT8 (monocarboxylate transporter 8) was identified. MCT8 is highly expressed ...

Last Updated: 18 Jun 2007

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Triac Trial in MCT8 Patients
 

Status: Not yet recruiting

Condition Summary: Allan-Herndon-Dudley Syndrome

 

Last Updated: 11 Feb 2014

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