It is a real pleasure to invite you to join us in the new North American Metabolic Academy. This collegial training course is primarily designed for Medical Genetics residents and is focused on clinical and therapeutic approaches to inborn errors of metabolism, with a special emphasis on those disorders amenable to treatment.
As a metabolic pediatrician who trained and has worked for 40 years in Necker Enfants-Malades Hospital in Paris, where René-Théophile Laennec in 1818 not only invented thoracic auscultation but also described the basis of physical signs, I believe it is absolutely crucial that metabolic physicians have a sound clinical training. As biochemical and molecular investigations grow in complexity, there is a risk that these effective but complex, time consuming, and expensive methods will be used in an uncontrolled and uncritical way. In view of the major improvements in treatment, it has become increasingly important, in order for physicians in the front line not to miss a treatable disorder, that physicians should be able to initiate a simple method of clinical screening, particularly in the emergency room, not only for children but also for adults.
The clinical diagnosis of IEMs relies upon a small number of important principles:
I hope that you agree that this training course contributes to your understanding of IEM and will enable you to enhance your application of these important principles.
Professor Jean-Marie Saudubray Executive Editor of the NAMA project