Peroxisomal Disorders

Much has been learned about the group of peroxisomal disorders in recent years. This includes the development of sensitive laboratory methods allowing the measurement of the full panel of peroxisomal metabolites and follow-up enzymatic methods to pinpoint the underlying defect. Furthermore, the molecular basis of most-if not all-of the peroxisomal diseases identified so far has been resolved with obvious consequences for diagnosis, including prenatal diagnosis. The availability of these sophisticated and sensitive methods together with the rapid development of genetic techniques including whole exome sequencing and whole genome sequencing has allowed the identification of atypical phenotypes including isolated cerebellar ataxia, which holds great promises for the future in terms of patient recognition. This is especially important since therapeutic measures will surely become available in the next years to come, surely for the milder variants