Galactose oxidation using C-13 in healthy and galactosemic children

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art_RESENDE-CAMPANHOLI_Galactose_oxidation_using_C13_in_healthy_and_galactosemic_2015.PDF (152.25 KB)
Citações na Scopus
1
Tipo de produção
article
Data de publicação
2015
DOI
SciELO
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
ASSOC BRAS DIVULG CIENTIFICA
Autores
RESENDE-CAMPANHOLI, D. R.
FERRIOLI, E.
PFRIMER, K.
CIAMPO, L. A. Del
CAMELO JUNIOR, J. S.
Citação
BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH, v.48, n.3, p.280-285, 2015
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
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-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.
Palavras-chave
Galactosemias, Isotope labeling, Children, Breath tests
URI
https://observatorio.fm.usp.br/handle/OPI/10029
Referências
  1. ABRAHAM HD, 1969, J BIOL CHEM, V244, P545
  2. Barbouth DS, 2007, PEDIATR RES, V62, P720
  3. BERRY GT, 1993, J INHERIT METAB DIS, V16, P91, DOI 10.1007/BF00711320
  4. Berry GT, 2004, MOL GENET METAB, V82, P130, DOI 10.1016/j.ymgme.2004.03.003
  5. Berry GT, 2000, PEDIATR RES, V48, P323, DOI 10.1203/00006450-200009000-00010
  6. Berry GT, 1997, EUR J PEDIATR, V156, pS43, DOI 10.1007/PL00014271
  7. Bosch AM, 2004, PEDIATRICS, V113, pE423, DOI 10.1542/peds.113.5.e423
  8. Bosch AM, 2006, J INHERIT METAB DIS, V29, P516, DOI 10.1007/s10545-006-0382-0
  9. Camelo JS, 2009, J INHERIT METAB DIS, V32, pS141, DOI 10.1007/s10545-009-1112-1
  10. Clague A, 2002, CLIN CHIM ACTA, V315, P99, DOI 10.1016/S0009-8981(01)00716-1
  11. de Jongh WA, 2008, BIOTECHNOL BIOENG, V101, P317, DOI 10.1002/bit.21890
  12. ELSAS LJ, 1993, PEDIATR RES, V33, P445, DOI 10.1203/00006450-199305000-00005
  13. GITZELMA.R, 1969, PEDIATR RES, V3, P279, DOI 10.1203/00006450-196907000-00003
  14. Guerrero NV, 2000, J PEDIATR-US, V137, P833, DOI 10.1067/mpd.2000.109148
  15. Henderson Howard, 2002, BMC Pediatr, V2, P7, DOI 10.1186/1471-2431-2-7
  16. KAUFMAN FR, 1995, EUR J PEDIATR, V154, pS2, DOI 10.1007/BF02143794
  17. Lai K, 1998, HUM MUTAT, V11, P28
  18. Padilla Carmencita D., 2003, Southeast Asian Journal of Tropical Medicine and Public Health, V34, P215
  19. Schofield W N, 1985, Hum Nutr Clin Nutr, V39 Suppl 1, P5
  20. Schweitzer-Krantz S, 2003, EUR J PEDIATR, V162, pS50, DOI 10.1007/s00431-003-1352-2
  21. Webb AL, 2003, PEDIATR RES, V53, P396, DOI 10.1203/01.PDR.0000049666.19532.1B
  22. WEIR JBD, 1949, J PHYSIOL-LONDON, V109, P1

Coleções
Artigos e Materiais de Revistas Científicas - LIM/36
Artigos e Materiais de Revistas Científicas - HC/ICr