Newborn screening for galactosemia: a new method used in Manitoba.
Pediatrics
; 84(2): 331-5, 1989 Aug.
Article
em En
| MEDLINE
| ID: mdl-2748263
ABSTRACT
In July 1983, the Manitoba Perinatal Screening Programme modified its existing procedure for neonatal screening for galactosemia by introducing quantitation of total galactose plus galactose-1-phosphate from dried blood spots using the Multistat centrifugal analyzer. The first 4 years of experience with this method in combination with the Beutler spot test for galactose-1-phosphate uridyl transferase activity is the subject of this report. Of 70,336 newborns screened, 142 (0.20%) met the criteria for clinical follow up. Of these, one child was confirmed to have classical galactosemia and nine children were found to be Duarte/galactosemia genetic compounds. This method of galactosemia screening has proven to be rapid, sensitive, efficient, and the method of choice for mass screening of disorders of galactose metabolism.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Programas de Rastreamento
/
Galactosemias
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Humans
/
Newborn
País/Região como assunto:
America do norte
Idioma:
En
Ano de publicação:
1989
Tipo de documento:
Article