Abstract
Galactosemia (GAL), due to Gal-1-PO4 uridyltransferase deficiency, is an inborn error of galactose metabolism causing neonatal morbidity and mortality. The general features of GAL are not specific, and the particular characteristics that may better define GAL in the neonate have not been systematically studied. We have analyzed the clinical and biochemical findings prior to treatment in all 23 neonates with GAL identified by routine screening during the past 21 years. At the time of newborn screening identification, only one infant had been diagnosed clinically as having GAL, although 18 were symptomatic; 3/5 asymptomatic infants were biochemically variant. Among all affected neonates 6 (26%) had bacterial infections, 5 with bacteremia and 1 with urinary tract infection; 5/6 infections were due to E. coli. Hyperbilirubinemia during the first week of life was almost exclusively unconjugated, while the conjugated fraction tended to rise only during the second week. Serum transaminase elevations were associated with conjugated hyperbilirubinemia. Coagulopathy was the most distinguishing feature of liver dysfunction, and was disproportionate to the severity of other biochemical indications of liver disease. Of 11 infants studied by slit-lamp ophthalmologic examination, 7 (64%) had “water-droplet cataracts”.
GAL produces severe physiologic disturbances which are often unsuspected from a deceptively milder clinical presentation. These disturbances may be related to the long-term sequelae now recognized in early-treated galactosemics.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Korson, M., Irons, M. & Levy, H. THE NEONATAL PHENOTYPE OF GALACTOSEMIA. Pediatr Res 21 (Suppl 4), 343 (1987). https://doi.org/10.1203/00006450-198704010-01056
Issue Date:
DOI: https://doi.org/10.1203/00006450-198704010-01056