title: Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.
abstract: We describe an 18-year-old patient with psychomotor retardation and abnormally short metatarsi and metacarpals but no other signs of classic Refsum disease. Molecular analysis of the phytanoyl-coenzyme A hydroxylase gene revealed a homozygous deletion causing a frameshift. Surprisingly, L-pipecolic acid was elevated in plasma, and microscopy of the liver showed a reduced number of peroxisomes per cell and a larger average peroxisome size. These abnormal peroxisomes lacked catalase as did peroxisomes in fibroblasts of this patient. Such generalized peroxisomal abnormalities are not present in classic Refsum disease.
authors.affiliation: Department of Pediatrics, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: M R
authors.initials: MR
authors.lastname: Baumgartner
authors.forename: G A
authors.initials: GA
authors.lastname: Jansen
authors.forename: N M
authors.initials: NM
authors.lastname: Verhoeven
authors.forename: P A
authors.initials: PA
authors.lastname: Mooyer
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: F
authors.initials: F
authors.lastname: Roels
authors.forename: M
authors.initials: M
authors.lastname: Espeel
authors.forename: A
authors.initials: A
authors.lastname: Fourmaintraux
authors.forename: H
authors.initials: H
authors.lastname: Bellet
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000378:metabolism*; D006899:Mixed Function Oxygenases / Q000378:metabolism*; D010831:Phytanic Acid / Q000378:metabolism*; D010875:Pipecolic Acids / Q000378:metabolism*; D012035:Refsum Disease / Q000201:enzymology / Q000235:genetics / Q000378:metabolism*
chemical_list: D010875:Pipecolic Acids; D010831:Phytanic Acid; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human