the laboratory diagnosis of inherited metabolic disorders

diagnosing inherited metabolic disorders is a joint effort of both clinical and laboratory disciplines. various aspects of metabolite, enzyme and mutation analysis will be discussed based on the experience of the metabolic section of the erasmus university medical centre. where should laboratory diagnosis start from? metabolite, enzyme or dna level? the emphasis will be on enzyme analysis of the lysosomal storage disorders. some new developments will be discussed as well as the specificity and sensitivity of enzyme analysis. some case reports, ranging from nearly missed diagnoses to unusual presentations, will also be presented. the 35 years of experience with prenatal enzyme analysis will be summarised.