Liver damage in galactosemia type I: a literary review

Abstract

Galactosemia is a rare hereditary disease associated with impaired galactose metabolism, which is characterized by a wide range of clinical syndromes. Most long-term observations are devoted to the study of neurological, ophthalmological and reproductive disorders. Liver damage in galactosemia is one of the central manifestations of the disease, determining the severity and prognosis of the disease, mainly in the neonatal period. The lack of timely dietary correction in the neonatal period leads to severe liver damage with the development of cirrhosis, portal hypertension and liver failure. An information search has shown that prolonged and catamnestic studies on the condition of the liver in children with various variants of galactosemia, in particular, against the background of dietary correction, are few. Most studies show significant reversibility of hepatopathy on the background of diet (even with severe manifestation), however, the number of such publications is not large and the issue requires further research.