Innate errors of metabolism: diagnostic approach in Primary Health Care

Abstract

The diagnosis of Inborn Metabolic Disorders is not only a difficult task but also one of the most important challenges for Primary Care Pediatricians, due to their peculiar characteristics- such as their large diversity and low frecuency. The aim of this text is to review signs and symptoms that can be detected by Primary Care Pediatricians and may be related to a metabolic problem. Pediatrician?s work is to find out what patients should be evaluated by an especialist and to treat acute descompensations of already diagnosed children. This is why it is so important to detect the signs and symptoms of metabolic disorders making use of the history, physical examination and basic laboratory tests. Inborn Errors of Metabolism should be diagnosed after other most common disorders are rouled out and if usual treatments are unsuccessfull.