Galactose metabolites in blood from neonates with and without hypergalactosaemia detected by mass screening

Concentrations of galactose (Gal) in plasma and galactose metabolites in re d blood cells (RBC) were determined in 18 normal neonates and 249 others wi th hypergalactosaemia according to the Paigen method. Normal neonatal value s for plasma Gal, RBC galactose-1-phosphate (Gal-1-P), RBC uridine diphosph ate glucose (UDP-Glc), and RBC uridine diphosphate galactose (UDP-Gal) were 0.96 +/- 0.71 mg/dl, 1.69 +/- 1.45 mg/dl of packed RBC, 1.00 +/- 0.45 mg/d l of packed RBC, and 1.44 +/- 0.45 mg/dl of packed RBC, respectively. The U DP-Gal concentration was higher and the UDP-Glc concentration lower than pr eviously reported in normal children. Of the 249 cases with excessive Gal i n whole blood, 23 showed high Gal concentrations in plasma; among these, fo ur portacaval shunts and one case of congenital biliary atresia were diagno sed. In subjects homozygous or heterozygous for UDP-Gal-4 epimerase deficie ncy, concentrations of UDP-Gal and Gal-1-P were elevated only in RBC, corre sponding to restriction of the metabolic abnormality to these cells. Most c ases of hypergalactosaemia detected by the Paigen method have large excesse s of Gal-1-P in RBC. Although a specific diagnosis based solely on blood Ga l metabolites is difficult, individual concentrations reflect underlying co nditions to some extent. Conclusion In neonates, uridine diphosphate galactose concentrations were h igher and uridine diphosphate glucose concentrations were lower than previo usly reported paediatric values. Patients with high plasma galactose concen trations should be investigated by hepatic imaging.