Galactosemia

Abstract

Despite the dramatic response of sick neonates with galactosemia to the withdrawal of galactose from the diet, over the long-term, complications, including learning disorders, verbal apraxia, and ataxia, often develop. It is clear that, although lifelong galactose restriction remains the basis of treatment for this disease, additional treatment methods are needed. The neurologist familiar with galactosemia can assist in diagnosis of neonates presenting with central nervous system symptoms. Familiarity with the long-term neurologic consequences of galactosemia can help the neurologist assist the family with prognostic information and to avoid unnecessary tests when complications occur.