Alkaptonuria - an atypical manifestation or management?
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 li...
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| Format: | Article |
| Language: | English |
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Mashhad University of Medical Sciences
2023-06-01
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| Series: | International Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://ijp.mums.ac.ir/article_22469_5d3358fda0431f90606aa74e79d477b0.pdf |
| _version_ | 1797705276120367104 |
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| author | Maryam Musavi Setareh Sadehhal Mohsen Azimi Nezhad |
| author_facet | Maryam Musavi Setareh Sadehhal Mohsen Azimi Nezhad |
| author_sort | Maryam Musavi |
| collection | DOAJ |
| description | 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 |
| first_indexed | 2024-03-12T05:34:42Z |
| format | Article |
| id | doaj.art-afba61aab3a645e096f362d8f91335d5 |
| institution | Directory Open Access Journal |
| issn | 2345-5047 2345-5055 |
| language | English |
| last_indexed | 2024-03-12T05:34:42Z |
| publishDate | 2023-06-01 |
| publisher | Mashhad University of Medical Sciences |
| record_format | Article |
| series | International Journal of Pediatrics |
| spelling | doaj.art-afba61aab3a645e096f362d8f91335d52023-09-03T06:33:04ZengMashhad University of Medical SciencesInternational Journal of Pediatrics2345-50472345-50552023-06-01116180131801710.22038/ijp.2023.61334.472322469Alkaptonuria - an atypical manifestation or management?Maryam Musavi0Setareh Sadehhal1Mohsen Azimi Nezhad2Healthy Ageing Research Center, Neyshabur University of Medical Sciences, Neyshabur, IranDepartment of Paediatrics Medicine, Hakim Hospital, Neyshabur University of Medical Sciences, Neyshabur, Iran3 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, FranceAlkaptonuria 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 colleagueshttps://ijp.mums.ac.ir/article_22469_5d3358fda0431f90606aa74e79d477b0.pdfalkaptonuriaauditory problemsneurological disorder |
| spellingShingle | Maryam Musavi Setareh Sadehhal Mohsen Azimi Nezhad Alkaptonuria - an atypical manifestation or management? International Journal of Pediatrics alkaptonuria auditory problems neurological disorder |
| title | Alkaptonuria - an atypical manifestation or management? |
| title_full | Alkaptonuria - an atypical manifestation or management? |
| title_fullStr | Alkaptonuria - an atypical manifestation or management? |
| title_full_unstemmed | Alkaptonuria - an atypical manifestation or management? |
| title_short | Alkaptonuria - an atypical manifestation or management? |
| title_sort | alkaptonuria an atypical manifestation or management |
| topic | alkaptonuria auditory problems neurological disorder |
| url | https://ijp.mums.ac.ir/article_22469_5d3358fda0431f90606aa74e79d477b0.pdf |
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