title: Diagnosis of alcaptonuria: rapid analysis of homogentisic acid by HPLC.
abstract: The clinical and biochemical features of five cases of alcaptonuria were reported. The concentration of homogentisic acid was determined in urine and also in plasma using a rapid, sensitive and specific HPLC method. In all five cases, the concentrations of homogentisic acid were elevated in urine rising up to 46.5 mmol/24 h. In plasma, homogentisic acid levels ranged from 33 to 38 mumols/l. In healthy individuals, homogentisic acid was not detectable in plasma and urine. The method described represents a very useful and suitable analytical tool for the diagnosis of alcaptonuria.
authors.affiliation: Laboratoire de Biochimie, Hôpital Debrousse, Lyon, France.
authors.forename: C
authors.initials: C
authors.lastname: Bory
authors.forename: R
authors.initials: R
authors.lastname: Boulieu
authors.forename: C
authors.initials: C
authors.lastname: Chantin
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
mesh_terms: D000328:Adult; D000368:Aged; D000474:Alkaptonuria / Q000097:blood / Q000175:diagnosis* / Q000652:urine; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D005260:Female; D006713:Homogentisic Acid / Q000097:blood / Q000652:urine*; D006801:Humans; D008297:Male; D008875:Middle Aged
chemical_list: D006713:Homogentisic Acid