title: [A child with dark discoloration of urine].
abstract: In a 3-year-old boy alkaptonuria was diagnosed. From early age on gradual dark discoloration of his urine had been noticed in the diapers, but routine urinalysis had not revealed abnormalities. Alkaptonuria is a rare metabolic disease in which homogentisic acid cannot be metabolised, due to a lack of the enzyme homogentisic acid oxidase. The disease often manifests itself in childhood by darkening of urine on standing. The excretion of homogentisic acid in urine in these patients is increased. The disease leads to serious consequences, such as ochronosis of cartilage and connective tissues with arthritis. It is expected that treatment with ascorbic acid and a dietary restriction of protein (1 g/kg/day) can decrease the late and serious consequences by diminishing the serum concentration of the metabolite benzoquinone acetic acid.
authors.affiliation: Afd. Kindergeneeskunde, Medisch Centrum Alkmaar.
authors.forename: Y M
authors.initials: YM
authors.lastname: Jeucken
authors.forename: G
authors.initials: G
authors.lastname: Visser
authors.forename: A S
authors.initials: AS
authors.lastname: Jaarsma
authors.forename: F J
authors.initials: FJ
authors.lastname: van Spronsen
mesh_terms: D000474:Alkaptonuria / Q000150:complications / Q000175:diagnosis* / Q000628:therapy* / Q000652:urine; D000975:Antioxidants / Q000627:therapeutic use*; D001205:Ascorbic Acid / Q000627:therapeutic use*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D018753:Diet, Protein-Restricted; D006713:Homogentisic Acid / Q000652:urine; D006801:Humans; D008297:Male; D016896:Treatment Outcome
chemical_list: D000975:Antioxidants; D006713:Homogentisic Acid; D001205:Ascorbic Acid