Article
Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Journal of clinical research in pediatric endocrinology - 23 Aug 2023
Özalkak Şervan, Demiral Meliha, Ünal Edip, Taş Funda Feryal, Onay Hüseyin, Demirbilek Hüseyin, Özbek Mehmet Nuri
Abstract excerpt
Congenital generalized lipodystrophy (CGL) is a rare, autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human leptin (metreleptin) has been suggested as an effective treatment option. We present successful treatment with metreleptin in a boy with CGL and results from the first year of follow-up. An...
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