When to suspect metabolic disease

Abstract

Careful clinical and family histories, repeated clinical examinations and a sequential work-up by routine laboratory and organ evaluation remains the best and most often only way to diagnosis. While it is imperative to exclude disorders for which effective treatments are available, in cases of slowly progressive, and by experience often incurable disorders, diagnostic procedures should be performed stepwise. Unexpected findings in the routine laboratory in patients with unusual and unexplained symptoms may be indicative of an inborn error of metabolism. Every child who is suspected of suffering from an inborn error of metabolism requires a careful evaluation of organ functions aided by routine laboratory and imaging investigations. The involvement of multiple organ systems is an especially strong indication for an inherited metabolic disease. As it can be very difficult to recognize a constellation which was not personally experiences, a second opinion should be sought of in case of unexplained symptoms or disease courses. Metabolic investigations are usually not indicated in children with moderate developmental delay, isolated delay in speech development in early childhood, moderate failure to thrive, frequent infections, occasional seizures, e.g. during fever, or defined epileptic syndromes. © 2010 Springer-Verlag Berlin Heidelberg.