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: J Y Lee, C D Padilla, E L Chua
• Journal: The Southeast Asian journal of tropical medicine and public health (Southeast Asian J Trop Med Public Health) Vol. 30 Suppl 2 Pg. 66-8 ( 1999) ISSN: 0125-1562 [Print] Thailand
• PMID: 11405207 (Publication Type: Case Reports, Journal Article)

Chemical References

• Galactokinase

Topics

• Female
• Galactokinase (deficiency)
• Galactosemias (diagnosis, epidemiology)
• Humans
• Incidence
• Infant, Newborn
• Male
• Neonatal Screening
• Philippines (epidemiology)