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

• Main Authors: Şervan Özalkak (Author), Meliha Demiral (Author), Edip Ünal (Author), Funda Feryal Taş (Author), Hüseyin Onay (Author), Hüseyin Demirbilek (Author), Mehmet Nuri Ozbek (Author)
• Format: Book
• Published: Galenos Yayincilik, 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 p...