Endocrine Abstracts

Introduction: Hydroxymethylglutaric aciduria is a rare metabolic disease that is caused by the deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase, which participates in the metabolism of leucine and in the formation of ketone bodies. The symptomatology usually occurs in the first two years of life and consists of nausea, vomiting, diarrhea, hypotoniaanddepressed level of consciousness. Metabolic acidosis occurs during crises as a result of the accumulation of metabo...

Introduction: Recently, PCSK9 inhibitors have been approved in our country for familial hypercholesterolemia and for patients with cardiovascular diseases. They are still scarce data in real life patients effects.Objective: Analyse the features of first patients treated with PCSK9 inhibitors in a specific unit of familial dyslipidemia and the effect on lipid profile and other clinical variables.Material and methods: Data from patie...

Objectives: The transition from the paediatric age to the adult is a particularly vulnerable period in patients with metabolic congenital diseases (mcd). In andalusia two adults’ units exist (seville and malaga) for the follow-up of these patients. Our aim in this study was to evaluate the current series of attended patients.Material and methods: We evaluated all patients transferred to the adult units since 2008. The clinical records were analyzed ...

Rationale: Our aim has been to describe the assistance demand and the profile of patients treated in the eating disorders unit in our hospital.Methods: Observational retrospective study (reviewing medical histories).Results: One thousand two hundred and fourteen patients have been treated at the eating disorders unit between 1996 and 2012, 91.8% female. Age at first visit: 22.1±8.3 years. Time of monitoring tracking: 1.2±...