Endocrine Abstracts

Glycogen storage disease type 1 (GSD1) is a rare inherited defect of endogenous glucose production. While children present with severe hypoglycemia the propensity for hypoglycemia may decrease with age in these patients. It was the aim of this study to elucidate the mechanisms for milder hypoglycemia symptoms in grown up GSD1 patients. Four patients with GSD1 (BMI: 23.2±6.3 kg/m2, age: 21±3 yr) and four healthy controls matched for BMI (23.1±3.0 kg/m<...

Mutations in the hypothalamic expressed MC4R gene are the most frequent cause of monogenetic obesity. This Gαs-Protein coupled receptor (GPCR) is activated by endogenous ligands α- and β-MSH and is inhibited by the only known endogenous inverse agonist and antagonist Agouti related peptide (AgRP). Naturally occurring mutations help to understand activation mechanisms of the human MC4R.We previously described a constitutively act...