Long-term follow-up of galactosaemia.

Galactosaemia is an inborn error of galactose metabolism in which the affected subject is unable to convert galactose to glucose due to the absence of activity of the enzyme galactose-l-phosphate (gal-l-p) uridyl transferase. This enzyme facilitates the conversion of gal-l-p to glucose-l-phosphate (glu-l-p). The untreated infant fails to thrive; jaundice, hepatomegaly sometimes with splenomegaly, and ascites are found, and he becomes seriously ill and may die. If he survives, cataracts may develop and there is mental retardation, usually severe; in some cases also cirrhosis of the liver is found. The signs and symptoms regress quickly after the removal of galactose from the diet. The object of this clinical study was to review all possible cases of galactosaemia in Great Britain, in particular those in which the diagnosis had been established by Dr. V. Schwarz of the Departnent of Medical Biochemistry, University of Manchester, with a view to establishing their present clinical condition and psychological and emotional state. In addition it was hoped to obtain evidence concerning the total effect of dietary therapy and the time for relaxing this regimen.