title: Urinary organic acids in peroxisomal disorders: a simple screening method.
abstract: Using GC-MS, we studied urinary organic acids in 20 Japanese patients with peroxisomal disorders, including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy, and single deficiency of peroxisomal beta-oxidation enzymes. Non-ketotic dicarboxylic aciduria with elevated sebacate/adipate molar ratio was observed in 19 of the 20 patients. Elevation of 2-hydroxysebacate and epoxydicarboxylic acids were seen in 13 and 18, respectively. Tyrosyluria was remarkable in all patients. In two ZS patients, we tracked the time course from birth to infancy, and all the above stated findings were detected, except for one sample. Urinary organic acid analysis is indeed useful for screening subjects with peroxisomal disorders.
authors.affiliation: Department of Pediatrics, Shimane Medical University, Izumo, Japan. seijiyam@shimane-med.ac.jp
authors.forename: S
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: M
authors.initials: M
authors.lastname: Iga
authors.forename: M
authors.initials: M
authors.lastname: Kimura
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: N
authors.initials: N
authors.lastname: Kondo
authors.forename: Y
authors.initials: Y
authors.lastname: Tazawa
authors.forename: T
authors.initials: T
authors.lastname: Orii
mesh_terms: D000143:Acids / Q000652:urine*; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D018901:Peroxisomal Disorders / Q000175:diagnosis* / Q000652:urine
chemical_list: D000143:Acids