Alkaptonuria - an atypical manifestation or management?

Document Type : case report

Authors

1 Healthy Ageing Research Center, Neyshabur University of Medical Sciences, Neyshabur, Iran

2 Department of Paediatrics Medicine, Hakim Hospital, Neyshabur University of Medical Sciences, Neyshabur, Iran

3 3 Noncommunicable Diseases Research Center, Neyshabur University of Medical Sciences, Neyshabur, Iran. 4 UMR INSERM U 1122, IGE-PCV “Interactions Gène-Environnement en Physiopathologie CardioVasculaire”, Université de Lorraine, 54000, Nancy, France

Abstract

Alkaptonuria is a rare autosomal recessive disease, in which the metabolism of homogentisic acid is defective. Homogentisate 1, 2- dioxygenase deficiency results in homogentisic aciduria, ochronosis, and ochronotic arthritis, in which pigments precipitate in joints especially those under pressure like vertebrae. In this case of isolated alkaptonuria, we faced an atypical manifestation of alkaptonuria in a seven-year-old girl, which had not been previously detected by our colleagues

Keywords

References

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Journal of Pediatric Perspectives
Volume 11, Issue 6
June 2023
Pages 18013-18017

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