Beschreibung:
Inborn errors of metabolism correspond to a group of individually rare but collectively numerous diseases, which affect the body’s mechanisms of breakage and renewal through enzymes. According to the pathophysiological mechanism can be classified into 3 groups, which have heterogeneous signs and symptoms that may be acute or chronic. The recognition of these findings favors the early diagnosis and consequently the appropriate therapeutic approach. However, because they are chronic health conditions threatening or limiting life, the inborn errors of metabolism fulfill criteria for the use of palliative care to the diagnostic suspicion.