Transient galactosemia detected by neonatal mass screening

BACKGROUND: The Paigen method has detected not only persistently galactosemic patients, but also many children with transient galactosemia during the neonatal period. The diagnosis and clinical course of 389 patients with transient galactosemia detected by neonatal mass-screening from 1986 to 1996 in the Hiroshima prefecture were evaluated. METHODS: Enzyme assays for galactose metabolism, measurement of blood galactose levels, erythrocyte galactose-1-phosphate levels, serum total bile acid (TBA) levels and liver function tests were performed at the first visit by patients to our hospital. Liver function and the mental and physical development of patients were evaluated during the follow-up period (approximately 1 year). RESULTS: The diagnoses were classified as follows: 253 patients with unknown cause, 128 heterozygotes and two homozygotes for galactose enzyme deficiency (galactose-1-phosphate uridyltransferase, galactokinase, UDP-galactose 4-epimerase) and six heterozygotes for Duarte variant. Twelve patients showed high serum levels of TBA (> 80 mumol/L), which suggests the presence of portal-systemic shunts during the neonatal period causing galactosemia. Most patients showed normal mental and physical development during infancy. However, of 25 patients with mild to moderate abnormal liver function tests of unknown etiology after the neonatal period, five showed poor weight gain coincident with liver dysfunction. In almost all patients, levels of transferase decreased to the normal range by 1 year of age. CONCLUSION: We found that the prognosis of transient galactosemia was almost always favorable. However, patients should be followed for at least 1 year, because late liver dysfunction, which might cause poor weight gain, occurred in 6% of our patients.