[Inherited metabolic disorders in adults:growing patient numbers, advanced diagnostic tools and new treatment modalities].

Abstract

Adults with inherited metabolic disorders (IMD) are a growing patient group. In the Netherlands, adult IMD patient numbers increased fourfold over the past 15 years, from 846 to 3518 individuals, divided over 160 different disorders. The most common disorders are mitochondrial diseases, phenylketonuria and Fabry disease. Approximately half of the patients are diagnosed after age 16. Adult IMD patients require specific care, provided by adult metabolic specialists. Those specialists include, but are not limited to, internists, endocrinologists, neurologists and dieticians. The application of new diagnostic tools, enabling measurement of a large panel of metabolites and assessment of large part of the genome, have greatly improved IMD diagnostics. Better recognition of adults with IMDs, combined with new treatment modalities, will improve quality of life of adults with IMD in the decades to come.