Myogenic Disease and Metabolic Acidosis, Think of Multiple Acyl-coenzyme A Dehydrogenase Deficiency

Abstract : Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), also known as glutaric aciduria type-2, is a fatty acid oxidation disorder. Although it is usually diagnosed during the neonatal period, some of its forms are characterized by a later onset and may sometimes be revealed during adulthood. We have reported the case of a 29-year-old woman, hospitalized in intensive care unit for a motor deficit of the four limbs associated with rhabdomyolysis, severe lactic acidosis and hypoketotic hypoglycemia. The objective of this clinical case is to illustrate the diagnostic approach and the therapeutic treatment of an acute decompensation of MADD.