SciELO - Scientific Electronic Library Online

 
vol.73 número2Anestesia en la ventana aorto-pulmonar índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados

Journal

Artigo

Indicadores

  • Não possue artigos citadosCitado por SciELO

Links relacionados

  • Não possue artigos similaresSimilares em SciELO

Compartilhar


Revista Cubana de Pediatría

versão impressa ISSN 0034-7531versão On-line ISSN 1561-3119

Resumo

GUTIERREZ GARCIA, Enna; BARRIOS GARCIA, Bárbara; CARRILLO ESTRADA, Úrsula  e  LANTIGUA CRUZ, Aracely. Galactosemia: diagnóstico de 5 casos con deficiencia de transferasa. Rev Cubana Pediatr [online]. 2001, vol.73, n.2, pp.75-80. ISSN 0034-7531.

The biochemical study of 5 children who were referred to the National Center of Medical Genetics because they were clinically suspected of suffering from an inborn error of the carbohydrate metabolism is presented. Thin layer chromatography was carried out to detect these substances in urine and a band was found at the galactose level. A high level of metabolites in blood was found on quantifying them. The final diagnosis consited in demonstrating the deficiency of erythrocytic galactose-1-phosphate uridyltransferase by the spectrophotometric method. The character of carriers of the deficient gene was also proved among the parents of the 5 children.

Palavras-chave : GALACTOSEMIA [diagnosis]; GALACTOSEMIA [enzymology]; GALACTOSEMIA [genetics]; TRANSFERASES [deficiency]; GALACTOSE [deficiency]; CARBOHYDRATE METABOLISM; INBORN ERRORS; CHILD.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )

 

Creative Commons License Todo o conteúdo deste periódico, exceto onde está identificado, está licenciado sob uma Licença Creative Commons