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

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

Research output: Contribution to journalArticle

33 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)108-111
Number of pages4
JournalAnnals of Clinical Biochemistry
Volume40
Issue number1
DOIs
StatePublished - Jan 1 2003
Externally publishedYes

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Alkaptonuria
Arthralgia
Ascorbic Acid
Homogentisic Acid
Protein-Restricted Diet
Proteins
Moths
Nutrition
Clinical Protocols
Knee
Bone
Nitrogen
Joints
Bone and Bones
Therapeutics

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria. / Morava-Kozicz, Eva; Kosztolányi, György; Engelke, Udo F H; Wevers, Ron A.

In: Annals of Clinical Biochemistry, Vol. 40, No. 1, 01.01.2003, p. 108-111.

Research output: Contribution to journalArticle

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