Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
Southeast Asian J Trop Med Public Health
;
1999 ; 30 Suppl 2(): 66-8
Artigo
em Inglês
| IMSEAR
| ID: sea-30771
ABSTRACT
Galactosemia is an inborn error of galactose metabolism due to a deficiency of any of the galactokinase, galactose-1-phosphate uridyl transferase (GALT), or epimerase enzymes. The Philippines, with its pilot newborn screening project, has been screening for this disorder for 2 years now. A total of 62,841 babies have been screened using the galactose and galactose-1-phosphate spot test. Confirmatory testing is done by the newborn screening laboratory of the The New Children's Hospital in Westmead, Australia. Two cases of galactosemia 1 classical galactosemia and 1 galactokinase deficiency have so far been confirmed. Clinical review, problems encountered, and management are described. Long-term outcome of these patients, however, is yet to be determined.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Filipinas
/
Feminino
/
Humanos
/
Masculino
/
Recém-Nascido
/
Incidência
/
Triagem Neonatal
/
Galactoquinase
/
Galactosemias
Tipo de estudo:
Estudo diagnóstico
/
Estudo de incidência
/
Estudo prognóstico
/
Estudo de rastreamento
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Southeast Asian J Trop Med Public Health
Ano de publicação:
1999
Tipo de documento:
Artigo
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