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Galactose oxidation using (13)C in healthy and galactosemic children

Resende-Campanholi, D R ; Porta, G ; Ferrioli, E ; Pfrimer, K ; Ciampo, L A Del ; Junior, J S Camelo

Brazilian journal of medical and biological research, 2015-03, Vol.48 (3), p.280-285 [Periódico revisado por pares]

Brazil: Associacao Brasileira de Divulgacao Cientifica (ABDC)

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Título:
Galactose oxidation using (13)C in healthy and galactosemic children
Autor: Resende-Campanholi, D R ; Porta, G ; Ferrioli, E ; Pfrimer, K ; Ciampo, L A Del ; Junior, J S Camelo
Assuntos: Breath Tests ; Case-Control Studies ; Child ; Child, Preschool ; Children ; Diagnosis ; Female ; Galactose - metabolism ; Galactosemia ; Galactosemias - genetics ; Galactosemias - metabolism ; Health aspects ; Humans ; Infant ; Male ; Mass Spectrometry ; Oxidation-Reduction ; Risk factors ; ROC Curve ; UTP-Hexose-1-Phosphate Uridylyltransferase - genetics ; UTP-Hexose-1-Phosphate Uridylyltransferase - metabolism
É parte de: Brazilian journal of medical and biological research, 2015-03, Vol.48 (3), p.280-285
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Descrição: Galactosemia 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-(13)C-galactose) allows the determination of galactose metabolism in 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 (13)CO2 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-(13)C-galactose to all children. The molar ratios of (13)CO2 and (12)CO2 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 (13)C 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.
Editor: Brazil: Associacao Brasileira de Divulgacao Cientifica (ABDC)
Idioma: Inglês

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Galactose oxidation using (13)C in healthy and galactosemic children

Resende-Campanholi, D R ; Porta, G ; Ferrioli, E ; Pfrimer, K ; Ciampo, L A Del ; Junior, J S Camelo

Brazil: Associacao Brasileira de Divulgacao Cientifica (ABDC)

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