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Hyperphagia and Early-Onset Obesity due to a Novel Homozygous Missense Mutation in Prohormone Convertase 1/3

2007; Oxford University Press; Volume: 92; Issue: 9 Linguagem: Inglês

10.1210/jc.2007-0687

1945-7197

I. Sadaf Farooqi, Karolien Volders, R Stanhope, Robert Heuschkel, Anne White, Emma Lank, Julia M. Keogh, Stephen O’Rahilly, John W.M. Creemers,

Cellular transport and secretion

Context: Congenital deficiency of the neuroendocrine-specific enzyme prohormone convertase (PC) 1/3 leads to a syndrome characterized by obesity, small intestinal dysfunction, and dysregulation of glucose homeostasis in humans. To date, only two unrelated subjects with this disorder have been reported.