Issues on universal screening for galactosemia.
- Author:
Carmencita David PADILLA
1
;
Stephen T S LAM
Author Information
1. Department of Pediatrics, College of Medicine, University of the Philippines Manila. carmencita.padilla@gmail.com
- Publication Type:Journal Article
- MeSH:
Galactosemias;
diagnosis;
Humans;
Infant, Newborn;
Neonatal Screening;
standards
- From:Annals of the Academy of Medicine, Singapore
2008;37(12 Suppl):39-33
- CountrySingapore
- Language:English
-
Abstract:
Galactosemia is an inborn error of galactose metabolism, caused by an abnormality in the conversion of galactose and uridine diphosphoglucose to glucose-1-phosphate and uridine diphosphogalactose through the action of 3 sequential enzymes: galactokinase (GALK), galactose- 1-phosphate uridyltransferase (GALT), and uridine phosphogalactose 4-epimerase (GALE). The advent of newborn screening brought hope with early diagnosis and prompt treatment. Newborn screening advocates have pushed for inclusion of galactosemia in the newborn screening panel. However, reports of complications despite early treatment have questioned the merits of universal screening. This paper presents issues in favour and against universal newborn screening for galactosemia.
