Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.

@article{Gibson2004CongenitalLD,
  title={Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.},
  author={William Thomas Gibson and I Sadaf Farooqi and Mary Moreau and Alex M Depaoli and Elizabeth C Lawrence and Stephen O'Rahilly and Rebecca A. Trussell},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2004},
  volume={89 10},
  pages={4821-6}
}
Congenital leptin deficiency is a rare, but treatable, cause of severe early-onset obesity. To date, two United Kingdom families of Pakistani origin carrying a frameshift/premature stop mutation, c.398delG (Delta133G), and one Turkish family carrying a missense mutation, c.313C>T (Arg(105)Trp), have been described. Affected subjects are homozygotes and manifest severe obesity and hyperphagia accompanied by metabolic, neuroendocrine, and immune dysfunction. The effects of recombinant leptin… CONTINUE READING

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