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Leptin deficiency

Definition:

Congenital leptin deficiency is a rare human genetic syndrome resulting in severe hyperphagia and early-onset obesity. Beneficial effects of leptin replacement therapy in this condition have been reported.

References:

[1]. C T Montague, et al. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature. 1997 Jun 26;387(6636):903-8. [Content Brief]

[2]. William T Gibson, et al. Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy. J Clin Endocrinol Metab. 2004 Oct;89(10):4821-6. [Content Brief]

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