title: Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria.
abstract: There is no definitive treatment protocol for alkaptonuria. A patient with alkaptonuria was treated with ascorbic acid (0.5 g/day) from the age of 4 years. He developed episodes of severe recurrent joint pain at 9.5 years of age after which a protein-restricted diet (1.3 g/kg/day) was started. Protein restriction in combination with ascorbic acid therapy (1 g/day in two divided doses) resulted in a significant decrease but not a normalization of the urinary homogentisic acid excretion. Joint pain resolved and the radiological evidence of 'moth-eaten' irregularities on the articular surface in both knees disappeared. He is currently well, growing normally and in nitrogen balance. Our findings document a reversal of bone abnormalities and clinical symptoms in a case of alkaptonuria. The results should be confirmed in a larger study. We suggest that protein restriction should be applied in combination with ascorbic acid in affected patients as soon as joint pain occurs.
authors.affiliation: University of Pécs, Department of Medical Genetics and Child Development, Pécs, Hungary.
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
authors.forename: György
authors.initials: G
authors.lastname: Kosztolányi
authors.forename: Udo F H
authors.initials: UF
authors.lastname: Engelke
authors.forename: Ron A
authors.initials: RA
authors.lastname: Wevers
mesh_terms: D000474:Alkaptonuria / Q000175:diagnosis* / Q000000981:diagnostic imaging* / Q000652:urine; D001205:Ascorbic Acid / Q000627:therapeutic use*; D002675:Child, Preschool; D006801:Humans; D007717:Knee / Q000000981:diagnostic imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D011859:Radiography; D013997:Time Factors
chemical_list: D001205:Ascorbic Acid