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  • Title: Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
    Author: Lee JY, Padilla CD, Chua EL.
    Journal: Southeast Asian J Trop Med Public Health; 1999; 30 Suppl 2():66-8. PubMed ID: 11405207.
    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.
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