Galactose Metabolism in a Patient with Hereditary Galactokinase Deficiency

Publisher Website
Google Scholar
Abstract
The ability of a galactokinase deficient patient to metabolize galactose, galactitol and galactonate was quantitated. In galactokinase deficiency, conversion of galactose to CO2 is minimal. Apparently the defect is extensive, involving all tissues. Galactitol and galactonate, injected intravenously, were not metabolized. The administration of C‐1 and C‐2 labelled galactose resulted in 14CO2 excretory patterns similar to that observed in uridyltransferase deficient mutants. The different fates of C‐1 and C‐2 observed in this galactokinase deficient patient give support to the existence of a direct oxidative pathway for galactose. Galactonate, although present in urine during the period of observation following injection of radioactive galactose failed to become labelled.