Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria

Ann Clin Biochem 2003;40:108-111
doi:10.1258/000456303321016268
© 2003 Association for Clinical Biochemistry

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Case Reports


Eva Morava,
György Kosztolányi,
Udo F.H. Engelke and
Ron A. Wevers


University of Pécs, Department of Medical Genetics and Child Development, Pécs, Hungary & Departments of Pediatrics and Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands;
University of Pécs, Department of Medical Genetics and Child Development, Pécs, Hungary;
Departments of Pediatrics and Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands;
Departments of Pediatrics and Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands

There is no definitive treatment protocol for alkaptonuria.A patient with alkaptonuria was treated with ascorbic acid (0·5g/day) from the age of 4 years. He developed episodes of severerecurrent joint pain at 9·5 years of age after whicha 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 decreasebut 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 clinicalsymptoms in a case of alkaptonuria. The results should be confirmedin a larger study. We suggest that protein restriction shouldbe applied in combination with ascorbic acid in affected patientsas soon as joint pain occurs.


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