Single center experience of biotinidase deficiency: 259 patients and six novel mutations

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dc.contributor.authorCanda, Ebru
dc.contributor.authorYazici, Havva
dc.contributor.authorEr, Esra
dc.contributor.authorKose, Melis
dc.contributor.authorBasol, Gunes
dc.contributor.authorOnay, Huseyin
dc.contributor.authorUcar, Sema Kalkan
dc.contributor.authorHabif, Sara
dc.contributor.authorÖzkınay, Ferda
dc.contributor.authorCoker, Mahmut
dc.date.accessioned2019-10-27T10:03:49Z
dc.date.available2019-10-27T10:03:49Z
dc.date.issued2018
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It is classified into two levels based on the biotinidase enzyme activity: partial deficiency (10%-30% enzyme activity) and profound deficiency (0%-10% enzyme activity). The aims of this study were to evaluate our patients with BD, identify the spectrum of biotinidase (BTD) gene mutations in Turkish patients and to determine the clinical and laboratory findings of our patients and their follow-up period. Methods: A total of 259 patients who were diagnosed with BD were enrolled in the study. One hundred and forty-eight patients were male (57.1%), and 111 patients were female (42.9%). Results: The number of patients detected by newborn screening was 221 (85.3%). By family screening, 31 (12%) patients were diagnosed with BD. Seven patients (2.7%) had different initial complaints and were diagnosed with BD. Partial BD was detected in 186 (71.8%) patients, and the profound deficiency was detected in 73 (28.2%) patients. Most of our patients were asymptomatic. The most commonly found variants were p.D444H, p.R157H, c.98_104delinsTCC. The novel mutations which were detected in this study are p.D401N(c.1201G >A), p.A82G (c.245C>G), p.F128S(c.383T>C), c617 619del/TTG (p.Va1207de1), p.A287T(c.859G > A), p.S491H(c.1471A > G). The most common mutation was p.R157H in profound BD and p.D444H in partial BD. All diagnosed patients were treated with biotin. Conclusions: The diagnosis of BD should be based on plasma biotinidase activity and molecular analysis. We determined the clinical and genetic spectra of a large group of patients with BD from Western Turkey. The frequent mutations in our study were similar to the literature. In this study, six novel mutations were described.en_US
dc.identifier.doi10.1515/jpem-2018-0148en_US
dc.identifier.endpage926en_US
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issue8en_US
dc.identifier.pmid29995633en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage917en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2018-0148
dc.identifier.urihttps://hdl.handle.net/11454/30165
dc.identifier.volume31en_US
dc.identifier.wosWOS:000441350700012en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_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.subjectbiotinidase deficiencyen_US
dc.subjectnewborn screeningen_US
dc.subjectnovel mutationen_US
dc.titleSingle center experience of biotinidase deficiency: 259 patients and six novel mutationsen_US
dc.typeArticleen_US

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