Issues on universal screening for galactosemia
Annals of the Academy of Medicine, Singapore
;
: 39-33, 2008.
Article
in English
| WPRIM
| ID: wpr-244469
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Reference Standards
/
Neonatal Screening
/
Diagnosis
/
Galactosemias
Type of study:
Diagnostic study
/
Screening study
Limits:
Humans
/
Infant, Newborn
Language:
English
Journal:
Annals of the Academy of Medicine, Singapore
Year:
2008
Type:
Article
Similar
MEDLINE
...
LILACS
LIS