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Musavi, Maryam, Sadehhal, Setareh, Azimi Nezhad, Mohsen. (1402). Alkaptonuria - an atypical manifestation or management?. , 11(6), 18013-18017. doi: 10.22038/ijp.2023.61334.4723
Maryam Musavi; Setareh Sadehhal; Mohsen Azimi Nezhad. "Alkaptonuria - an atypical manifestation or management?". , 11, 6, 1402, 18013-18017. doi: 10.22038/ijp.2023.61334.4723
Musavi, Maryam, Sadehhal, Setareh, Azimi Nezhad, Mohsen. (1402). 'Alkaptonuria - an atypical manifestation or management?', , 11(6), pp. 18013-18017. doi: 10.22038/ijp.2023.61334.4723
Musavi, Maryam, Sadehhal, Setareh, Azimi Nezhad, Mohsen. Alkaptonuria - an atypical manifestation or management?. , 1402; 11(6): 18013-18017. doi: 10.22038/ijp.2023.61334.4723

Alkaptonuria - an atypical manifestation or management?

Journal of Pediatric Perspectives
مقاله 15، دوره 11، شماره 6، شهریور 2023، صفحه 18013-18017    اصل مقاله (162.13 K)
نوع مقاله: case report
شناسه دیجیتال (DOI): 10.22038/ijp.2023.61334.4723
نویسندگان
Maryam Musavi1؛ Setareh Sadehhal2؛ Mohsen Azimi Nezhad* 3
1Healthy Ageing Research Center, Neyshabur University of Medical Sciences, Neyshabur, Iran
2Department of Paediatrics Medicine, Hakim Hospital, Neyshabur University of Medical Sciences, Neyshabur, Iran
33 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
چکیده
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
کلیدواژه‌ها
Alkaptonuria؛ Auditory problems؛ neurological disorder
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