Metabolic diseases account for, at least, 15% to 20% of all rare illnesses. This book explains the cause of some of them, their symptoms and heritage, treatment, quality of life and near-future research possibilities. The author has chosen the most representative and well-known diseases to clarify them to you with the support of diagrams, drawings and clinical examples told by family members of the patients. To make the reading more fun, you will find nods to history of film, literature and medicine.
Isidro Vitoria Miñana is a biochemist and a paediatrician. He is the director of Nutrition and Metabolic diseases department of La Fe University Hospital and he coordinates the working group on Nutrition of the Spanish Association for the Study of Inborn Errors of Metabolism. He is also an associate professor of Paediatrics at the University of Valencia and has published books on paediatric dissemination such as Cuidados del recién nacido (Care of the newborn), (Exlibris, 2008) and Cuidados del bebé: verdades, mitos y errors (Care of the baby: truths, myths and mistakes), (Medici, 2014), as well as scientific papers about metabolic diseases and child nutrition.
