title: Peroxisomal disorders.
abstract: In 1973 Goldfischer et al reported that patients with the Zellweger cerebro-hepato-renal syndrome lacked demonstrable peroxisomes. This was the first time that a human disease state was attributed to a disorder of peroxisomes, subcellular organelles that had received little attention until that time. Interest in the organelle has increased rapidly during the last 10 years, both in respect to its cellular and molecular biology, and also in respect to its role in clinical medicine. Sixteen peroxisomal disorders have been identified at this time. They are pertinent to the neurologist because 12 of these disorders are associated with severe neurological disability. Furthermore, they are not infrequent: our laboratory has identified more than 3,000 patients. This presentation will provide basic information about peroxisome structure and function and then summarize the classification, diagnosis, genetics, pathogenesis, and therapy of the peroxisomal disorders.
authors.affiliation: Kennedy Krieger Institute, Baltimore, MD 21205, USA.
authors.forename: H W
authors.initials: HW
authors.lastname: Moser
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008830:Microbodies / Q000235:genetics; D009460:Neurologic Examination; D018901:Peroxisomal Disorders / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010641:Phenotype