Errors Innate of the Metabolism

Aim Generate tools for clinical suspicion, diagnosis and correct treatment of the inborn errors of metabolism (EIM) that occur in the neonatal period. In particular those that HE present as a disease serious that requires treatment of emergency he which can save them the life as well as avoiding neurological complications permanent. Introduction EIMs, also called “inherited metabolic disorders” 1 , cover a broad group of alterations biochemical of origin genetic in the structure either in the function of a protein 2 . They can manifest at any age, both in pediatric age and in adolescence or adulthood 3 . In this chapter we will refer to those of neonatal presentation, and within them we will emphasis in those in the which a treatment prompt can change his forecast. The suspicion of the presence of a EIM in the newborn may arise from history familiar, by he antecedent of a brother deceased with chart similar either Yeah there is parental consanguinity. But since the majority of cases are autosomal inheritance recessive does not always raise this alert in the interrogation. The immaturity of the newborn determines that have a very limited capacity for signs and symptoms in response to the most of the attacks. By this reason the presentation clinic is to slight nonspecific with signs and symptoms common with other more common diseases. Is Therefore, it is essential to include EIM within the differential diagnoses of the newborn. born sick and consider them in parallel to other more frequent pathologies 4 .