Galactosemia: Review of the literature

Abstract

Galactosemia is an inherited disorder of galactose metabolism caused by poor activity in one of the four enzymes in the Leloir pathway. The classic and severe form of presentation is Galactose-1-phosphate uridyltransferase (GALT) deficiency which manifests itself practically from the neonatal period as a life-threatening disease and whose clinical picture can be resolved by restricting dietary galactose; however, in some cases, the treatment has proven insufficient to prevent long-term complications such as cognitive, social and reproductive deficiencies. The objective of this article is to make a detailed description of galactosemia, clinical and biochemical variants, as well as diagnosis and management so that the pediatrician is familiar with this disease, has a high index of suspicion and can perform an early detection.