Abstract
Newborns and infants presenting acutely with inherited metabolic disorders (IMD) frequently remain undiagnosed until late in the course of their illness, because usually one does not think on it. Delay in the recognition and treatment of IMD may have tragic consequences.
Suspicion, thinking about the possibility, it is the most important key to diagnosing an IMD! Personal and family history as well as a physical exam may help to right evaluation of the patient. Results of initial screening tests direct one's efforts to advanced testing and to definitive diagnostic analyses.
Specific metabolic abnormalities define the basic principles for stabilization of the patient, suspicious of having an acute IMD; specific treatment is then targeted to the actually determined defect. Patients with some IMD present in a morbid state and do not survive.
For genetic counselling, however, it is important to diagnose the IMD, at least by perimortem collection of specimens.