[Diagnosis and therapy of acute metabolic crisis in the neonatal period]

Important for the clinical outcome of an acute metabolic crisis in the newborn infant are early diagnosis and specific therapeutic measures. A selective screening procedure for the diagnosis of disorders in amino and organic acid metabolism, for beta-oxidation and urea cycle defects and mitochondriopathies is necessary. Gas chromatography/mass spectrometry is the leading diagnostic tool in this screening procedure. During the last six years ten patients with an acute metabolic crisis in the newborn period were observed at the Children's Hospital at the University of Innsbruck. In seven of them the onset of the disease occurred within the first week of life. Initially the most important therapeutic measures were withdrawal of food, induction of anabolism and specific detoxification. In our experience continuous arteriovenous hemofiltration has proved to be an efficient and applicable method for elimination of toxic metabolites in the acute crisis of a newborn infant.