title: Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
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.
authors.affiliation: University of the Philippines Manila.
authors.forename: J Y
authors.initials: JY
authors.lastname: Lee
authors.forename: C D
authors.initials: CD
authors.lastname: Padilla
authors.forename: E L
authors.initials: EL
authors.lastname: Chua
mesh_terms: D005260:Female; D005686:Galactokinase / Q000172:deficiency; D005693:Galactosemias / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D010679:Philippines / Q000453:epidemiology
chemical_list: D005686:Galactokinase