Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey

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dc.contributor.authorKisa, Pelin Teke
dc.contributor.authorKose, Melis
dc.contributor.authorUnal, Ozlem
dc.contributor.authorEr, Esra
dc.contributor.authorHismi, Burcu Ozturk
dc.contributor.authorBulbul, Fatma Selda
dc.contributor.authorKose, Engin
dc.contributor.authorGunduz, Mehmet
dc.contributor.authorCanda, Ebru
dc.contributor.authorKucukcongar, Aynur
dc.contributor.authorArslan, Nur
dc.date.accessioned2019-10-27T09:43:11Z
dc.date.available2019-10-27T09:43:11Z
dc.date.issued2019
dc.departmentEge Üniversitesien_US
dc.description.abstractClassical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of galactosemia can be prevented. In this study, we describe the clinical phenotypes, time of diagnosis and GALT genotypes of 76 galactosemia patients from Turkey, where the disease is not yet included in the newborn screening program. The median age at first symptom was 10 days (range 5-20), while the median age at diagnosis was 30 days (range 17-53). Nearly half of the patients (36 patients, 47.4%) were diagnosed later than age 1 month. Fifty-eight individuals were found to have 18 different pathogenic variants in their 116 mutant alleles. In our sample, Q188R variant has the highest frequency with 53%, the other half of the allele frequency of the patients showed 17 different genotypes. Despite presenting with typical clinical manifestations, classical galactosemia patients are diagnosed late in Turkey. Due to the geographical location of our country, different pathogenic GALT variants may be seen in Turkish patients. In the present study, a clear genotype-phenotype correlation could not be established in patients.en_US
dc.identifier.doi10.1515/jpem-2018-0457
dc.identifier.endpage681en_US
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issn0334-018Xen_US
dc.identifier.issn2191-0251en_US
dc.identifier.issue7en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage675en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2018-0457
dc.identifier.urihttps://hdl.handle.net/11454/28848
dc.identifier.volume32en_US
dc.identifier.wosWOS:000474203700003en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectClassical galactosemiaen_US
dc.subjectGALT variationsen_US
dc.subjecttime of diagnosisen_US
dc.titleClinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkeyen_US
dc.typeArticleen_US

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