Extended, selective neurometabolic screening for inborn errors of metabolism

Seizures and encephalopathias in the newborn, retardations in the growing up child up to leg-stressed ataxias in the adult are only some symptoms, which can refer to an inborn error of metabolism. With often nonspecific symptoms the search for pathognomic metabolites is partly difficult. Therefore an extended metabolic screening, which goes far beyond the extended newborn screening in dried blood spots, is necessary for a clear diagnosis.

Gas chromatography and the application of tandem mass spectrometry in urine and plasma can be now used for a general, effective neurometabolic screening in inborn errors of metabolism. The meaning both of characteristic single metabolites and of key metabolites for whole groups of diseases is pointed out. Hereby we can screen for organic acidurias, amino acidopathies, purine-, pyrimidine-defects as well as for defects of cobalamin metabolism and peroxisomal diseases. In addition, an increased cardiovascular and atherosclerotic risc may be detected.

Tandem mass spectrometry proves here as a reliable, effective and fast method. Principles in making a clear diagnosis up to a simplified therapy monitoring of diagnosed metabolic diseases are pointed out.