Diagnostic approach to inborn errors of metabolism in an emergency unit

Objectives: Our aim was to review the patients with a final diagnosis of in born error of metabolism (IEM) who had previously required clinical attenti on at the emergency unit of our hospital over the last 9 years. Methods: From the 184 patients with IEM, we selected 53 patients who requir ed clinical attention at the EU as a prior step that led to a definitive di agnosis. We analyzed the frequency of the various IEM, their clinical prese ntations, and basic biochemical abnormalities in decompensation. Results: We detected a predominance of neurologic signs (in 85% of our pati ents), followed by digestive symptoms (58.5%). Both were associated in 51% of patients, Vomiting and other digestive signs were observed in the same p roportion as described in other series, but dehydration was only seen in th ree of our patients, probably because of early attention and fluid correcti on, Conclusions: 1) the diagnosis of an IEM has often been made after the first consultation at the EU, leading to hospitalization; 2) we should suspect a n TEM in patients with neurologic abnormalities (eg, developmental delay, h ypotonus or feeding difficulties), especially in those patients with multis ystem involvement who appear with acute symptoms; 3) it is of the greatest importance that the appropriate sample collection be made before starting a ny treatment, because abnormal biochemical data can yield a first approach and allow the definitive diagnosis; and 4) the diagnosis of a patient with an IEM is not based on a single clinical or biochemical data but rather on all abnormal features taken together.