Disorders 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.