Urinary and Serum Galactitol in Galactosemic Patients

Serum and urinary galactitol levels were examined in two patients with classical galactosemia. Even under strict dietary therapy, galactitol levels were much higher than those of healthy controls. In a 6-day-old patient who had eaten large amounts of galactose before diagnosis, it took more than two weeks for urinary galactitol to decrease to the stable value. In an 8-year-old case, more than ten days were required for urinary galactitol to reach the base line level after a galactose load of 1.25 g/kg. In both patients, the urinary galactose levels decreased rapidly. After loading with a small amount of galactose (5 g, equivalent to 200 ml of milk) in the latter patient, higher levels of urinary and serum galactitol were maintained for a long time, as compared with galactose, but they returned to baseline level after 24 hours. From these results, we discussed the use of urinary galactitol as an index to check galactose intake.