A clinical and biochemical study of galactosaemia: A possible explanation of the nature of the biochemical lesion

Abstract

Two further cases of galactosaemia are presented with the results of clinical and biochemical investigations. The effect of milk or galactose feeding for eight- or 10-day periods is described, with particular reference to blood glucose and galactose levels, galactose excretion, renal function and blood and plasma phosphorus levels. Reference is made to the work carried out in certain aspects of erythrocyte metabolism in this disease. The causation of the signs and symptoms of the disease is discussed in the light of the findings reported in this communication. The hypothesis is put forward that the varied manifestations of galactosemia may be attributed to localized accumulation of galactose-l-phosphate within the tissues, and that the extent to which such accumulation occurs-and consequently the resulting lesion or impairment of function-is determined by the ratio of local concentration of enzymes concerned with the early stage of galactose metabolism.