Some disturbances of erythrocyte metabolism in galactosaemia

Abstract

Galactosaemia is an inborn error of metabolism involving a specific inability to metabolize galactose normally. The affected infants show failure to thrive, enlargement of the liver and spleen, vomiting, jaundice, proteinuria, aminoaciduria, a high blood-galactose level and consequent excretion of large quantities of this sugar in the urine. These disturbances may be avoided or overcome by the early withdrawal of all sources of dietary galactose. Thereafter, the administration of galactose in any form causes this sugar to re- appear in blood and urine in significant amounts. If the condition should remain untreated for any length of time death may ensue, whilst the sur- vivors may develop cataract, cirrhosis of the liver and mental retardation.