ABSTRACT
Galactosemia is an inborn error of carbohydrate metabolism that results from deficiency of galactose-1-phosphate uridyl transferase. Patients with galactosemia may present first with sepsis neonatorum. Pseudotumor cerebri has been observed in a number of patients with galactosemia. The mean enzyme activity for heterozygotes for the galactosemia variant approximates half that of normal individuals, and this is the level observed in Duarte homozygotes. The treatment for galactosemia is exclusion of galactose from the diet. In developed countries, galactosemia is detected by programs of neonatal screening in which the transferase enzyme, or galactose content, is assayed in blood. Pregnancies have occurred in female patients with classical galactosemia, although they are very rare. A curious syndrome of neurologic abnormality was reported in siblings with galactosemia. Dietary control of galactose intake was excellent and documented by determination of levels of Gal-1-P.
