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Xu, R. Proopiomelanocortin Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5490 (accessed on 25 September 2026).
Xu R. Proopiomelanocortin Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5490. Accessed September 25, 2026.
Xu, Rita. "Proopiomelanocortin Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5490 (accessed September 25, 2026).
Xu, R. (2020, December 24). Proopiomelanocortin Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/5490
Xu, Rita. "Proopiomelanocortin Deficiency." Encyclopedia. Web. 24 December, 2020.
Proopiomelanocortin Deficiency
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency

Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin.

genetic conditions

References

  1. Krude H, Biebermann H, Gruters A. Mutations in the human proopiomelanocortingene. Ann N Y Acad Sci. 2003 Jun;994:233-9. Review.
  2. Krude H, Biebermann H, Luck W, Horn R, Brabant G, Grüters A. Severeearly-onset obesity, adrenal insufficiency and red hair pigmentation caused byPOMC mutations in humans. Nat Genet. 1998 Jun;19(2):155-7.
  3. Krude H, Biebermann H, Schnabel D, Tansek MZ, Theunissen P, Mullis PE, GrütersA. Obesity due to proopiomelanocortin deficiency: three new cases and treatmenttrials with thyroid hormone and ACTH4-10. J Clin Endocrinol Metab. 2003Oct;88(10):4633-40.
  4. Krude H, Grüters A. Implications of proopiomelanocortin (POMC) mutations inhumans: the POMC deficiency syndrome. Trends Endocrinol Metab. 2000Jan-Feb;11(1):15-22. Review.
  5. Lee YS. The role of leptin-melanocortin system and human weight regulation:lessons from experiments of nature. Ann Acad Med Singap. 2009 Jan;38(1):34-11.Review.
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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 : Rita Xu
View Times: 1.2K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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