Congenital leptin deficiency (LEPD) 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.
Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O'Rahilly S, Trussell RA
タイトル
Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.
