ea0063p184 | Diabetes, Obesity and Metabolism 1 | ECE2019
Doulatram Gamgaram Viyey Kishore
, Marin Montserrat Gonzalo
, Molero Inmaculada Gonzalez
, Fernandez Jose Abuin
, Torralvo Francisco Jose Sanchez
, Adana Marisol Ruiz de
, Fuster Gabriel Olveira
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...