hrp0097p1-457 | Fat, Metabolism and Obesity | ESPE2023
Maharaj Vedatta
, Bhangoo Amrit
, Volcotrub Egor
, Khurana Divya
, Javier Aisenberg Javier
, Ten Svetlana
Aim of the study: Correlate genetic data of patients heterozygous of PCSK1 gene variations with the clinical phenotype.Introduction: Heterozygous variants of the PCSK1 gene have been described in cases of early onset of morbid obesity in childhood. This gene encodes prohormone convertase 1/3 enzyme, a serine endoprotease expressed in neuroendocrine cells that converts inactive prohormones into functional hormones importa...