GALACTOSEMIA is a rare, inherited metabolic disorder which, when unrecognized, may lead to death in early infancy or survival with varying degrees of mental retardation, cirrhosis of the liver, lenticular opacities, and growth failure. Isselbacher, Kalckar, and their associates have identified the defect in galactosemia as a deficiency of the enzyme galactose-1-phosphate uridyl transferase.1,2 The identification of this defect does not provide a full explanation for the clinical observations made in patients with galactosemia. Patients with this disease exhibit a considerable degree of variability in expression of the clinical features of the illness. Such a finding has suggested the possibility of alternate routes for metabolism of the hexose which may be better utilized in those patients with milder symptoms.
In an earlier report the compound galactitol has been identified in the serum and urine of subjects with galactosemia who had recently ingested galactose in the diet.3 Subsequently galactitol
EGAN TJ, WELLS WW. Alternate Metabolic Pathway in Galactosemia: Observations in Patient With Galactosemia. Am J Dis Child. 1966;111(4):400–405. doi:10.1001/archpedi.1966.02090070098013
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