Mostrar registro simples

dc.contributor.authorCamargo Neto, Euricopt_BR
dc.contributor.authorSchulte, Jaquelinept_BR
dc.contributor.authorRubim, Rosáliapt_BR
dc.contributor.authorLewis, E.pt_BR
dc.contributor.authorDe Mari, Jurema de Fatimapt_BR
dc.contributor.authorCastilhos, C.pt_BR
dc.contributor.authorBrites, Adrianapt_BR
dc.contributor.authorGiugliani, Robertopt_BR
dc.contributor.authorJensen, K.P.pt_BR
dc.contributor.authorWolf, B.pt_BR
dc.date.accessioned2010-04-24T04:15:40Zpt_BR
dc.date.issued2004pt_BR
dc.identifier.issn0100-879Xpt_BR
dc.identifier.urihttp://hdl.handle.net/10183/21194pt_BR
dc.description.abstractBiotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10% of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. Variability in serum enzyme activities and discrepancies with mutation analyses were probably due to inappropriate handling and storage of samples sent to the laboratory. Obtaining an appropriate control serum at the same time as that of the suspected child will undoubtedly decrease the false-positive rate (0.09%). Mutation analysis can be used to confirm the genotype of these children. The estimated incidence of biotinidase deficiency in Brazil is about 1 in 9,000, higher than in most other countries. Screening and treatment of biotinidase deficiency are effective and warranted. These results strongly suggest that biotinidase deficiency should be included in the newborn mass screening program of Brazil.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofBrazilian journal of medical and biological research. Ribeirão Preto, SP. Vol. 37, no. 3 (Mar. 2004), p. 295-299pt_BR
dc.rightsOpen Accessen
dc.subjectBioquímicapt_BR
dc.subjectNewborn screeningen
dc.subjectRecém-nascidopt_BR
dc.subjectBiotinidase deficiencyen
dc.subjectBiotinidaseen
dc.subjectMutaçãopt_BR
dc.subjectGenética médicapt_BR
dc.subjectMutationsen
dc.subjectEnzyme assayen
dc.titleNewborn screening for biotinidase deficiency in Brazil : biochemical and molecular characterizationspt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb000483776pt_BR
dc.type.originNacionalpt_BR


Thumbnail
   

Este item está licenciado na Creative Commons License

Mostrar registro simples