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The Genetic Metabolic Diseases section is part of the Department of Clinical Genetics of the Erasmus Medical Centre. The section offers biochemical diagnostics and performs research in the field of inborn errors of metabolism. 
Human metabolism is a dynamic process: compounds are continuously synthesized and degraded. They may be very simple compounds. such as amino acids but also macromolecules, such as mucopolysaccharides. Synthesis and degradation of these compounds are catalysed by enzymes. When an enzyme is missing due to a defect in DNA, the metabolism may be disturbed at a specific site. This may lead to accumulation of metabolites or a shortage of certain compounds.
The Metabolic laboratory is involved in the qualitative and quantitative analysis of many different metabolites in urine, plasma or spinal fluid, employing state-of-the-art analytical techniques such as tandem mass spectrometry. An abnormal concentration of a metabolite or an unusual metabolite may be an indication for a disturbed metabolic process resulting from an inherited metabolic disease.
When an abnormal metabolite pattern is found, enzyme diagnostics may be a next step to establish a diagnosis. At our Enzyme diagnostics laboratory, enzyme defects of some 100 different genetic metabolic disorders can be determined. The enzyme deficiency may be subsequently confirmed by mutation analysis.
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