Galactose oxidation using 13C in healthy and galactosemic children

Autor: L A Del Ciampo, Eduardo Ferrioli, Gilda Porta, D.R. Resende-Campanholi, Karina Pfrimer, J.S. Camelo Junior
Jazyk: angličtina
Rok vydání: 2015
Předmět:
Male
Medicine (General)
Pediatrics
Physiology
Biochemistry
Mass Spectrometry
CRIANÇAS
chemistry.chemical_compound
Oral administration
Biology (General)
General Pharmacology
Toxicology and Pharmaceutics
Child
Children
lcsh:QH301-705.5
lcsh:R5-920
medicine.diagnostic_test
General Neuroscience
Galactosemia
Healthy subjects
General Medicine
Sick child
Air sample
Child
Preschool
Female
lcsh:Medicine (General)
Oxidation-Reduction
Isotope labeling
Galactosemias
medicine.medical_specialty
QH301-705.5
Immunology
Biophysics
Ocean Engineering
R5-920
Internal medicine
Breath tests
medicine
Humans
UTP-Hexose-1-Phosphate Uridylyltransferase
Clinical Investigation
Breath test
business.industry
Significant difference
Galactose
Infant
Cell Biology
medicine.disease
Endocrinology
ROC Curve
chemistry
lcsh:Biology (General)
Case-Control Studies
business
Zdroj: Brazilian Journal of Medical and Biological Research, Vol 48, Iss 3, Pp 280-285 (2015)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Brazilian Journal of Medical and Biological Research v.48 n.3 2015
Brazilian Journal of Medical and Biological Research
Associação Brasileira de Divulgação Científica (ABDC)
instacron:ABDC
Brazilian Journal of Medical and Biological Research, Volume: 48, Issue: 3, Pages: 280-285, Published: 20 JAN 2015
Popis: 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.
Databáze: OpenAIRE
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