Transient galactosemia detected by neonatal mass screening

Background: The Paigen method has detected not only persistently galactosem ic patients, but also many children with transient galactosemia during the neonatal period. The diagnosis and clinical course of 389 patients with tra nsient galactosemia detected by neonatal mass-screening from 1986 to 1996 i n the Hiroshima prefecture were evaluated. Methods: Enzyme assays for galactose metabolism, measurement of blood galac tose levels, erythrocyte galactose-1-phosphate levels, serum total bile aci d (TBA) levels and liver function tests were performed at the first visit b y patients to our hospital. Liver function and the mental and physical deve lopment of patients were evaluated during the follow-up period (approximate ly 1 year). Results: The diagnoses were classified as follows: 253 patients with unknow n cause, 128 heterozygotes and two homozygotes for galactose enzyme deficie ncy ealactose-1-phosphate uridyltransferase, galactokinase, UDP-galactose 4 -epimerase) and six heterozygotes for Duarte variant. Twelve patients showe d high serum levels of TBA(> 80 mu mol/L), which suggests the presence of p ortal-systemic shunts during the neonatal period causing galactosemia. Most patients showed normal mental and physical development during infancy. How ever, of 25 patients with mild to moderate abnormal liver function tests of unknown etiology after the neonatal period, five showed poop weight gain c oincident with liver dysfunction. In almost all patients, levels of transfe rase decreased to the normal range by 1 year of age. Conclusion: We found that the prognosis of transient galactosemia was almos t always favorable. However, patients should be followed for at least 1 yea r, because late liver dysfunction, which might cause poor weight gain, occu rred in 6% of our patients.