Publication:
Comparison of spectrophotometric and fluorimetric methods in evaluation of biotinidase deficiency

dc.contributor.coauthorIseri-Erten, Sevgin Özlem
dc.contributor.coauthorDikmen, Zeliha Günnur
dc.contributor.kuauthorUlusu, Nuriye Nuray
dc.contributor.kuprofileFaculty Member
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.yokid6807
dc.date.accessioned2024-11-09T23:19:57Z
dc.date.issued2016
dc.description.abstractBackground: Biotin, a water-soluble vitamin, is used as a co-factor by enzymes involved in carboxylation reactions. Biotinidase (BTD) catalyzes the recycling of biotin from en do genous and dietary sources. Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences when untreated. The aim of the study was to compare the results of spectrophotometric and fluorimetric methods, as well as to evaluate the advantages and disadvantages of both methods in current research practices. Methods: Study group was chosen among the BD suspected newborn, children and parents (n=52) who applied to Hacettepe University Pediatric Metabolism Unit. Results: BTD activity is stable for 2 hours at room temperature and at 4 degrees C, and for 4 months at -20 degrees C and -80 degrees C. Genetic and clinical results showed that 25% of the total number of patients had complete BD which was treated with 10 mg/day biotin, while 15.38% of the patients had partial BD, and they were prescribed biotin 5 mg/day. The area under the ROC curve was 0.960 +/- 0.25 and 0.927 +/- 0.41 for the fluorimetric and spectrophotometric method, respectively. Fluorimetric method showed 100% sensitivity and 97% specificity, whereas spectrophotometric method showed 90.5% sensitivity and 93.7% specificity. Conclusions: Fluorimetric method is superior to the spectro photo metric method due to higher sensitivity and specificity.
dc.description.indexedbyWoS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.issue2
dc.description.openaccessYES
dc.description.publisherscopeInternational
dc.description.sponsorshipHacettepe University Medical Faculty Scientific Research Department [887] This study was supported by Hacettepe University Medical Faculty Scientific Research Department, Project No: 887.
dc.description.volume35
dc.identifier.doi10.1515/jomb-2016-0004
dc.identifier.eissn1452-8266
dc.identifier.issn1452-8258
dc.identifier.quartileQ4
dc.identifier.scopus2-s2.0-84969909671
dc.identifier.urihttp://dx.doi.org/10.1515/jomb-2016-0004
dc.identifier.urihttps://hdl.handle.net/20.500.14288/10639
dc.identifier.wos375745000004
dc.keywordsBiotinidase
dc.keywordsEnzyme deficiency
dc.keywordsSpectrophotometry
dc.keywordsFluorimetry features
dc.keywordsAssay
dc.languageEnglish
dc.publisherSciendo
dc.sourceJournal of Medical Biochemistry
dc.subjectBiochemistry
dc.subjectMolecular biology
dc.titleComparison of spectrophotometric and fluorimetric methods in evaluation of biotinidase deficiency
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.authorid0000-0002-3173-1389
local.contributor.kuauthorUlusu, Nuriye Nuray

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