01365nam a22001697a 4500001001300000003000400013005001700017008004100034245012000075520081400195580006101009650001801070650002301088700002501111700003301136700002601169D0001J000103DOH20210227130346.0210227b           ||||| |||| 00| 0 eng d00aGalactosemia in three Filipino patients - The importance of newborn screening /cJohn Karl de Dios [and two others]3 aDisorders of galactose metabolism can be fatal if not treated early. Newborn screening has made it possible to detect and treat this disease. Three cases of galactosemia, one with galactokinase deficiency and two with galactose-1-phosphate uridyltransferase deficiency detected by newborn screening, are presented. Because of early detection and management, the first patient was spared the early complications of galactosemia and continues to grow and develop normally. The two other patients were diagnosed at 1 month, initial presentation included hepatomegaly and failure to thrive. Institution of treatment was able to reverse the acute complications and both are currently doing well. The importance of galactosemia newborn screening in preventing complications resulting from the disease is emphasized.  aIn: Acta Medica Philippina, 2009 vol 43 (2) pages: 15-17 2aGalactosemias 2aNeonatal Screening1 ade Dios, John Karl  1 aCapistrano-Estrada,  Sylvia 1 aChiong, Mary Anne D.