Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients

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dc.authoridUcar, Ulku/0000-0003-4838-1650
dc.authoridOzturk Hismi, Burcu/0000-0001-7146-0248
dc.authoridCakar, Nafiye Emel/0000-0003-2036-4082
dc.contributor.authorKisa, Pelin Teke
dc.contributor.authorGunduz, Mehmet
dc.contributor.authorDorum, Sevil
dc.contributor.authorUzun, Ozlem Unal
dc.contributor.authorCakar, Nafiye Emel
dc.contributor.authorYildirim, Gonca Kilic
dc.contributor.authorErdol, Sahin
dc.date.accessioned2025-01-21T16:35:31Z
dc.date.available2025-01-21T16:35:31Z
dc.date.issued2021
dc.departmentKırıkkale Üniversitesi
dc.description.abstractAlkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase (HGD) as a result of a defect in the HGD gene. HGD enzyme deficiency results in accumulation of homogentisic acid (HGA) in the body, which in turn leads to multisystemic clinical symptoms. The present study aimed to investigate the presenting symptoms, age at diagnosis, and clinical and genetic characteristics of AKU patients followed-up in different centers in Turkey. In this cross-sectional, multicenter, descriptive study, medical records of 66 AKU patients were retrospectively evaluated. Patients? data regarding demographic, clinical and genetic characteristics were recorded. HGD database (http://hgddatabase.cvtisr.sk/) was used to identify HGD gene variants. Of the patients, 37 (56.1%) presented with isolated dark urine and 29 (43.9%) were diagnosed based on the clinical symptoms or family screening. One of these patients was on follow-up for 2 years due to Parkinsonism and was diagnosed with AKU on further analyses. Signs of ochronosis such as joint pain, low back pain and renal stones developed in childhood in 7 patients. Eight patients were diagnosed with depression via psychiatric evaluation. There were 14 (21.2%) patients operated on for ochronosis. The most frequent mutation observed in the patients was c.175delA, which was followed by c.674G > A and c.1007-2A > T mutations. Four novel mutations (c.189G > A, c.549+1G > T, c.1188+1G > A, and c.334 T > G) were identified in the patients included in the study. In addition to the known signs such as dark urine and skin pigmentation, symptoms involving different systems such as neurological findings and depression can also be encountered in AKU patients. The presence of a change in urine color needs to be questioned in patients presenting with different symptoms such as arthralgia/arthritis, renal stones or low-back pain, particularly in childhood, when skin ochronosis is not pronounced, and further examination should be performed.
dc.identifier.doi10.1016/j.ejmg.2021.104197
dc.identifier.issn1769-7212
dc.identifier.issn1878-0849
dc.identifier.issue5
dc.identifier.pmid33746036
dc.identifier.scopus2-s2.0-85103118146
dc.identifier.scopusqualityQ3
dc.identifier.urihttps://doi.org/10.1016/j.ejmg.2021.104197
dc.identifier.urihttps://hdl.handle.net/20.500.12587/24146
dc.identifier.volume64
dc.identifier.wosWOS:000640911400002
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherElsevier
dc.relation.ispartofEuropean Journal of Medical Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_20241229
dc.subjectAlkaptonuria; Children; Adults; Ochronosis; HGD gene; Mutation
dc.titleAlkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients
dc.typeArticle

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