title: Ataxia and peripheral neuropathy: a benign variant of peroxisome dysgenesis.
abstract: A 5-year-old boy with panperoxisomal dysfunction is described. Clinical features included hypotonia, areflexia, and ataxia. Cognition, vision, hearing, and hepatic function were normal. A panel of peroxisomal markers, including very-long-chain fatty acids, phytanic acid, pipecolic acid, and catalase compartmentalization, were abnormal. This is a uniquely benign syndrome of disordered peroxisome biogenesis.
authors.affiliation: Division of Child Neurology, Columbia Presbyterian Medical Center, New York, NY 10032.
authors.forename: M
authors.initials: M
authors.lastname: MacCollin
authors.forename: D C
authors.initials: DC
authors.lastname: De Vivo
authors.forename: A B
authors.initials: AB
authors.lastname: Moser
authors.forename: M
authors.initials: M
authors.lastname: Beard
mesh_terms: D001259:Ataxia / Q000378:metabolism*; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D005347:Fibroblasts; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D008830:Microbodies / Q000201:enzymology / Q000378:metabolism*; D010523:Peripheral Nervous System Diseases / Q000378:metabolism*; D010831:Phytanic Acid / Q000097:blood
chemical_list: D010831:Phytanic Acid