Disorders of galactose metabolism

Abstract

Three inborn errors of galactose metabolism are known. The most important is classic galactosaemia caused by galactose-1-phosphate uridyltransferase (GALT) deficiency. A complete deficiency is life threatening with multiorgan involvement and long-term complications. Partial deficiency is usually, but not always, benign. Uridine diphosphate galactose 4-epimerase (GALE) deficiency exists in at least two forms. The very rare profound deficiency clinically resembles classic galactosaemia. The more frequent partial deficiency is usually benign. Galactokinase (GALK) deficiency is extremely rare and the most insidious, since it results in the formation of nuclear cataracts without provoking symptoms of intolerance.