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Human Melanocortin 4 Receptor Deficiency 

Human Melanocortin 4 Receptor Deficiency
Chapter:
Human Melanocortin 4 Receptor Deficiency
Author(s):

I. Sadaf Farooqi

and Stephen O'Rahilly

DOI:
10.1093/med/9780195300161.003.0006
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date: 22 April 2021

MC4R deficiency is the commonest monogenic form of obesity. Manipulation of the melanocortin pathway may prove to be a key drug target for obesity. While at present there is no specific therapy for MC4R deficiency, it is highly likely that these patients would respond well to pharmacotherapy that overcame the reduction in the hypothalamic melanocortinergic tone that exists. As most patients are heterozygotes with one functional allele intact, it is possible that small-molecule MC4R agonists might, in future, be appropriate treatments for this disorder.

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