Reference intervals of ?-glycosidase, ß-glycosidase, and ?-galactosidase in dried blood spot in a Turkish newborn population

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dc.contributor.authorAldemir O.
dc.contributor.authorErgun P.
dc.contributor.authorGüneş S.
dc.contributor.authorKöroglu O.A.
dc.contributor.authorYalaz M.
dc.contributor.authorKültürsay N.
dc.contributor.authorÇoker M.
dc.contributor.authorSözmen E.Y.
dc.date.accessioned2019-10-27T08:23:43Z
dc.date.available2019-10-27T08:23:43Z
dc.date.issued2013
dc.departmentEge Üniversitesien_US
dc.description.abstractInherited lysosomal storage diseases (LSDs) are rare, and diagnosis is often delayed for 7-10 years. Since the therapies have become available for a limited number of LSDs, (Fabry, Gaucher, Pompe, and MPS-1), early diagnosis of treatable LSDs can be lifesaving or ameliorating and allows timely treatment before irreversible damage occurs. Recently, the use of dried blood spot test (DBS) for newborn screening of LSDs has been proposed for newborn screening tests. They are noninvasive, sensitive, and specific assays with the further advantage of a fast turnaround time compared to measurement in leukocyte and/or fibroblast culture. We aimed to determine the reference intervals for lysosomal enzyme activities of newborn babies in our population and to investigate the effect of gestational week on enzyme activity. One hundred thirty healthy newborn babies (70 girls, 60 boys) were included into the study. ?-Glycosidase, ß-glycosidase, and ?-galactosidase activities in DBS samples of newborns were determined fluorometrically. Reference intervals were calculated using Dixon's rule and percentiles of 2.5-97.5. Cutoff limits (5 %) for ?-glycosidase, ß-glycosidase, and ?-galactosidase activities were 0.57, 0.92, and 2.18, respectively. ?-Galactosidase activity was higher in girls compared to boys (p<0.05). Interestingly, ?-glycosidase and ß-glycosidase activities of newborns who were delivered before 38 weeks were significantly lower than those who were delivered at 39-40 weeks. Conclusion It is of utmost importance to define the reference intervals for lysosomal enzyme activities as well as cutoff limits for newborn babies with regard to gestational age and sex. More studies to clarify the reason for the change in enzyme activity by gestational week will be required.en_US
dc.description.sponsorshipGenzymeen_US
dc.description.sponsorshipAcknowledgments We are grateful to Genzyme Corp. for the financial support and to Sundus Ekinci for the technical support in performing the enzymatic studies. --en_US
dc.identifier.doi10.1007/s00431-013-2026-3en_US
dc.identifier.endpage1227en_US
dc.identifier.issn0340-6199
dc.identifier.issue9en_US
dc.identifier.pmid23661235en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1221en_US
dc.identifier.urihttps://doi.org/10.1007/s00431-013-2026-3
dc.identifier.urihttps://hdl.handle.net/11454/26471
dc.identifier.volume172en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofEuropean Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectDBSen_US
dc.subjectFabryen_US
dc.subjectGaucheren_US
dc.subjectNewborn screeningen_US
dc.subjectPompeen_US
dc.titleReference intervals of ?-glycosidase, ß-glycosidase, and ?-galactosidase in dried blood spot in a Turkish newborn populationen_US
dc.typeArticleen_US

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