Leptin deficiency

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Leptin is a 167 amino acid peptide hormone coded by the LEP gene at 7q31.3. It is involved in lipid metabolism and multiple other physiological responses. See antilipolysis pathway.

Actions include:

  • Regulation of body weight
    • Inhibits food intake
    • Stimulates energy expenditure
  • Regulation of:
  • Inhibits bone formation

Deficiency causes severe hereditary obesity(Leptin deficiency (LEPD, OMIM:614962)[1][2] and is treatable with leptin. Abnormalities of the leptin receptor are commoner, with perhaps sometimes milder presentations. Such genetic presentations account for up to perhaps 5% of early onset obesity.

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