Galactose oxidation using C-13 in healthy and galactosemic children

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorRESENDE-CAMPANHOLI, D. R.
dc.contributor.authorPORTA, G.
dc.contributor.authorFERRIOLI, E.
dc.contributor.authorPFRIMER, K.
dc.contributor.authorCIAMPO, L. A. Del
dc.contributor.authorCAMELO JUNIOR, J. S.
dc.date.accessioned2015-08-14T15:52:26Z
dc.date.available2015-08-14T15:52:26Z
dc.date.issued2015
dc.description.abstractGalactosemia is an inborn error of galactose metabolism that occurs mainly as the outcome of galactose-1-phosphate uridyltransferase (GALT) deficiency. The ability to assess galactose oxidation following administration of a galactose-labeled isotope (1-C-13-galactose) allows the determination of galactose metabolismin a practical manner. We aimed to assess the level of galactose oxidation in both healthy and galactosemic Brazilian children. Twenty-one healthy children and seven children with galactosemia ranging from 1 to 7 years of age were studied. A breath test was used to quantitate (CO2)-C-13 enrichment in exhaled air before and at 30, 60, and 120 min after the oral administration of 7 mg/kg of an aqueous solution of 1-C-13-galactose to all children. The molar ratios of (CO2)-C-13 and (CO2)-C-12 were quantified by the mass/charge ratio (m/z) of stable isotopes in each air sample by gas-isotope-ratio mass spectrometry. In sick children, the cumulative percentage of C-13 from labeled galactose (CUMPCD) in the exhaled air ranged from 0.03% at 30 min to 1.67% at 120 min. In contrast, healthy subjects showed a much broader range in CUMPCD, with values from 0.4% at 30 min to 5.58% at 120 min. The study found a significant difference in galactose oxidation between children with and without galactosemia, demonstrating that the breath test is useful in discriminating children with GALT deficiencies.
dc.description.indexMEDLINE
dc.description.sponsorshipCAPES
dc.description.sponsorshipCNPq
dc.identifier.citationBRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH, v.48, n.3, p.280-285, 2015
dc.identifier.doi10.1590/1414-431X20144362
dc.identifier.eissn1678-4510
dc.identifier.issn0100-879X
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/10029
dc.language.isoeng
dc.publisherASSOC BRAS DIVULG CIENTIFICA
dc.relation.ispartofBrazilian Journal of Medical and Biological Research
dc.rightsopenAccess
dc.rights.holderCopyright ASSOC BRAS DIVULG CIENTIFICA
dc.subjectGalactosemias
dc.subjectIsotope labeling
dc.subjectChildren
dc.subjectBreath tests
dc.subject.otheruridine diphosphate galactose
dc.subject.othergalactose-1-phosphate uridyltransferase
dc.subject.otherclassical galactosemia
dc.subject.othergalactitol
dc.subject.otherdisease
dc.subject.wosBiology
dc.subject.wosMedicine, Research & Experimental
dc.titleGalactose oxidation using C-13 in healthy and galactosemic children
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalRESENDE-CAMPANHOLI, D. R.:Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Puericultura & Pediat, BR-14049 Ribeirao Preto, SP, Brazil
hcfmusp.author.externalFERRIOLI, E.:Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Clin Med, BR-14049 Ribeirao Preto, SP, Brazil
hcfmusp.author.externalPFRIMER, K.:Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Clin Med, BR-14049 Ribeirao Preto, SP, Brazil
hcfmusp.author.externalCIAMPO, L. A. Del:Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Puericultura & Pediat, BR-14049 Ribeirao Preto, SP, Brazil
hcfmusp.author.externalCAMELO JUNIOR, J. S.:Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Puericultura & Pediat, BR-14049 Ribeirao Preto, SP, Brazil
hcfmusp.citation.scopus1
hcfmusp.contributor.author-fmusphcGILDA PORTA
hcfmusp.description.beginpage280
hcfmusp.description.endpage285
hcfmusp.description.issue3
hcfmusp.description.volume48
hcfmusp.origemWOS
hcfmusp.origem.pubmed25608239
hcfmusp.origem.scieloSCIELO:S0100-879X2015000300280
hcfmusp.origem.scopus2-s2.0-84924874950
hcfmusp.origem.wosWOS:000351598600013
hcfmusp.publisher.citySAO PAULO
hcfmusp.publisher.countryBRAZIL
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