Increased serum urate in galactosemia patients after a galactose load: a possible role of nucleotide deficiency in galactosemic liver injury.

Five galactosemic and 5 normal children received an oral load of galactose under standardized conditions. The maximal blood galactose level after 1.5 hours was 12.6 +/- 2.0 (S.D.) mmol/l in individuals with a deficiency of uridylyl transferase (EC2.7.7.12) as compared to 5.8 +/- 1.2 (S.D.) mmol/l in the controls. The concentration of serum urate in galactosemics increased to 155% of the fasting level (P less than 0.005); no rise was detectable in the controls. The elimination of urate with the urine was augmented by the same amount in both groups. Our studies provide evidence for an increased catabolism of hepatic nucleotides. This may lead to a deficiency of nucleotides which is proposed as a cause of galactosemic liver injury.