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About 130 results

ALLMedicine™ Allan-Herndon-Dudley Syndrome Center

Research & Reviews  49 results

A CRISPR/Cas9-engineered avatar mouse model of monocarboxylate transporter 8 deficiency...
https://doi.org/10.1016/j.nbd.2022.105896
Neurobiology of Disease; Valcárcel-Hernández V, Guillén-Yunta M et. al.

Oct 16th, 2022 - Inactivating mutations in the specific thyroid hormone transporter monocarboxylate transporter 8 (MCT8) lead to an X-linked rare disease named MCT8 deficiency or Allan-Herndon-Dudley Syndrome. Patients exhibit a plethora of severe endocrine and ne...

Thyroid hormone regulators in human cerebral cortex development.
https://doi.org/10.1530/JOE-22-0189
The Journal of Endocrinology; Bernal J, Morte B et. al.

Oct 12th, 2022 - Brain development is critically dependent on the timely supply of thyroid hormones. The thyroid hormone transporters are central to the action of thyroid hormones in the brain, facilitating their passage through the blood-brain barrier. Mutations ...

Gene therapy targeting the blood-brain barrier improves neurological symptoms in a mode...
https://doi.org/10.1093/brain/awac243
Brain : a Journal of Neurology; Sundaram SM, Arrulo Pereira A et. al.

Aug 6th, 2022 - A genetic deficiency of the solute carrier monocarboxylate transporter 8 (MCT8), termed Allan-Herndon-Dudley syndrome, is an important cause of X-linked intellectual and motor disability. MCT8 transports thyroid hormones across cell membranes. Whi...

A novel frameshift mutation in Allan-Herndon-Dudley syndrome.
https://doi.org/10.1007/s00414-022-02823-z
International Journal of Legal Medicine; Liu Z, Zhao S et. al.

Apr 9th, 2022 - Allan-Herndon-Dudley syndrome (AHDS) is a very rare, X-linked psychomotor disability syndrome with delayed myelination, almost exclusively affecting boys. We present a case of a 4-year-old boy with AHDS who was found cyanotic, with intermittent vo...

A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a cas...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8981932
BMC Pediatrics; Chen X, Liu L et. al.

Apr 7th, 2022 - Allan-Herndon-Dudley syndrome (AHDS) is an X-linked recessive neurodegenerative disorder caused by mutations in the SLC16A2 gene that encodes thyroid hormone transporter. AHDS has been rarely reported in China. This study reported a novel splicing...

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Clinicaltrials.gov  3 results

Rescue of Infants With MCT8 Deficiency
https://clinicaltrials.gov/ct2/show/NCT04143295

Mar 10th, 2022 - MCT8 deficiency (that is also known as Allan-Herndon-Dudley syndrome) is a rare X-linked inherited disorder of brain development that causes severe intellectual disability and problems with movement. This condition, which occurs almost exclusively...

Glycerol-Phenylbutyrate Treatment in Children With MCT Mutation (Allan-Herndon- Dudley Syndrome)
https://clinicaltrials.gov/ct2/show/NCT05019417

Aug 24th, 2021 - Introduction and rationale Thyroid hormone (TH) is crucial for the development and metabolic state of virtually all tissues. TH signaling is regulated at the tissue level by intracellular conversion of the prohormone thyroxine (T4) to receptor-act...

Triac Trial II in MCT8 Deficiency Patients
https://clinicaltrials.gov/ct2/show/NCT02396459

Jun 25th, 2021 - This therapeutic trial will be conducted in patients with MCT8 deficiency (also called Allan-Herndon-Dudley Syndrome (AHDS)), which is due to mutations in monocarboxylate transporter (MCT)8. MCT8 is a thyroid hormone transporter which is crucial f...

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