Screening for galactosemia: Philippines experience. Newborn Screening Study Group

Southeast Asian J Trop Med Public Health. 1999:30 Suppl 2:66-8.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Galactokinase