[Galactosemia: a problem still unsolved].

Abstract

Classical galactosemia is an inherited metabolic disease that results from galactose-1-phosphate uridyltransferase deficiency. Untreated galactosemia has various manifestations, including central nervous system damage, hepatic failure, cataract. Galactose-restricted dietary treatment, the only therapy used in galactosemia, brings considerable improvement, especially in the neonatal period. However, in the most galactosemic patients this treatment does not prevent development of late-onset complications; mental retardation, ovarian failure and neurologic disturbances. This article presents a review of contemporary hypotheses on possible factors influencing the outcome in galactosemia, especially in regard to late-onset complications.