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Yang, C. Allan-Herndon-Dudley Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4683 (accessed on 26 September 2026).
Yang C. Allan-Herndon-Dudley Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4683. Accessed September 26, 2026.
Yang, Catherine. "Allan-Herndon-Dudley Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4683 (accessed September 26, 2026).
Yang, C. (2020, December 24). Allan-Herndon-Dudley Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4683
Yang, Catherine. "Allan-Herndon-Dudley Syndrome." Encyclopedia. Web. 24 December, 2020.
Allan-Herndon-Dudley Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/allan-herndon-dudley-syndrome

Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people.

genetic conditions

References

  1. Dumitrescu AM, Liao XH, Weiss RE, Millen K, Refetoff S. Tissue-specificthyroid hormone deprivation and excess in monocarboxylate transporter (mct)8-deficient mice. Endocrinology. 2006 Sep;147(9):4036-43.
  2. Friesema EC, Jansen J, Heuer H, Trajkovic M, Bauer K, Visser TJ. Mechanisms ofdisease: psychomotor retardation and high T3 levels caused by mutations inmonocarboxylate transporter 8. Nat Clin Pract Endocrinol Metab. 2006Sep;2(9):512-23. Review.
  3. Herzovich V, Vaiani E, Marino R, Dratler G, Lazzati JM, Tilitzky S, Ramirez P,Iorcansky S, Rivarola MA, Belgorosky A. Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormonetransporter gene. Horm Res. 2007;67(1):1-6.
  4. Holden KR, Zuñiga OF, May MM, Su H, Molinero MR, Rogers RC, Schwartz CE.X-linked MCT8 gene mutations: characterization of the pediatric neurologicphenotype. J Child Neurol. 2005 Oct;20(10):852-7.
  5. Jansen J, Friesema EC, Kester MH, Milici C, Reeser M, Grüters A, Barrett TG,Mancilla EE, Svensson J, Wemeau JL, Busi da Silva Canalli MH, Lundgren J,McEntagart ME, Hopper N, Arts WF, Visser TJ. Functional analysis ofmonocarboxylate transporter 8 mutations identified in patients with X-linkedpsychomotor retardation and elevated serum triiodothyronine. J Clin EndocrinolMetab. 2007 Jun;92(6):2378-81.
  6. Kakinuma H, Itoh M, Takahashi H. A novel mutation in the monocarboxylatetransporter 8 gene in a boy with putamen lesions and low free T4 levels incerebrospinal fluid. J Pediatr. 2005 Oct;147(4):552-4.
  7. Maranduba CM, Friesema EC, Kok F, Kester MH, Jansen J, Sertié AL, Passos-BuenoMR, Visser TJ. Decreased cellular uptake and metabolism in Allan-Herndon-Dudleysyndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. J Med Genet. 2006 May;43(5):457-60.
  8. Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J,Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ,Stevenson RE. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8(MCT8) gene. Am J Hum Genet. 2005 Jul;77(1):41-53.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 1.1K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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