Sugar and energy metabolism is the object of three modules (Modules 3, 4 and 5). Module 5 has a particular focus on some clinical aspects of IMDs associated to alterations in these important pathways. Specifically, hypoglycemia and how to detect several underlying IMDs that give rise to it, are described. In addition, the metabolism of lactate, the terminal product of anaerobic glucose metabolism, and the related lactic acidemia and acidosis are addressed, also highlighting the methods to specifically recognize lactic acidemia caused by IMDs. Â The Module also deals with galactosemia, an inborn error of the metabolism of galactose/lactose that manifests with life-threatening liver disease and E. Coli sepsis in early infancy. The use of dietary therapy and the difficulty in the treatment of some clinical features, such as neurological and bone manifestations and ovarian failure, are particularly explored.
Authors: Peter Witters, Mireia del Toro, Annet Bosch, Isabel Rivera, Estela Rubio
