Alkaptonuria - an atypical manifestation or management?
نویسندگان
1 Department of Paediatrics Medicine, Hakim Hospital, Neyshabur University of Medical Sciences, Neyshabur, Iran
2 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
3 Healthy Ageing Research Center, Neyshabur University of Medical Sciences, Neyshabur, Iran
doi
10.22038/ijp.2023.61334.4723چکیده
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
