The Genetic Mechanism of Galactosaemia

Abstract

Galactosaemia is a heredity disease of carbo- hydrate metabolism characterized by a failure to thrive, vomiting and jaundice in early infancy. Babies with this condition usually present with these symptoms and they are found to have enlarged firm livers, which soon become cirrhotic; this has been borne out by autopsy reports. They may be oedematous and have a tendency to bleed easily.