Endocrine Abstracts

Background: HADH encodes for the enzyme 3-hydroxyacyl-coenzyme A dehydrogenase (HADH) and catalyses the penultimate reaction in the beta-oxidation of fatty acids. Mutations in the HADH gene have recently been described to cause protein sensitive hyperinsulinaemic hypoglycaemia (HH). Protein sensitive HH (specifically leucine sensitivity), is also associated with the hyperinsulinism-hyperammonaemia syndrome (HI/HA syndrome) caused by activating mutations of GLUD1 ...

Introduction: Obesity is one of the biggest health challenges we currently face. Obesity results from imbalance of energy consumption and expenditure. Genetic studies on monogenic forms of obesity and Genome Wide Association studies have revealed neuronal mechanisms of genesis of obesity and/or leanness. We report a novel disorder of increased energy expenditure with severe failure to gain weight and increased brown fat.Case report: The proband is a whit...