[The Austrian Metabolic Register].

Abstract

The "Austrian Register for Metabolic Disorders" was founded in 1995 on the initiative of the "Work Group for Congenital Metabolic Disorders" within the Austrian Society for Pediatrics. It is designed as a clearinghouse for reporting and recording congenital metabolic disorders and aims to determine the frequency and regional distribution of these diseases. Another objective is to have patient data handy if and when new therapeutic options or new means of diagnostic verification, including carrier status or prenatal diagnosis, become available. Currently more than 400 patients are on record with disorders of amino acid, organic acid, lipid or carbohydrate metabolism, as well as disorders of the mitochondria, peroxisomes and lysosomes; furthermore, dyschromia, porphyria and diseases of connective tissue and disturbances in the metabolism of purines, pyrimidines, metals or vitamins. Lysosomal enzyme defects, mitochondrial and peroxisomal disorders account for the majority of cases. Patients have to be reported on a continuous basis as prerequisite for this initiative to be successful. It is, therefore, planned to incorporate reporting of metabolic disorders to the "Register" on a national scale as integral part of the diagnosis of these conditions.