Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
Southeast Asian J Trop Med Public Health
;
1999 ; 30 Suppl 2(): 66-8
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Philippines
/
Female
/
Humans
/
Male
/
Infant, Newborn
/
Incidence
/
Neonatal Screening
/
Galactokinase
/
Galactosemias
Type of study:
Diagnostic study
/
Incidence study
/
Prognostic study
/
Screening study
Country/Region as subject:
Asia
Language:
English
Journal:
Southeast Asian J Trop Med Public Health
Year:
1999
Type:
Article
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