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Galactose Metabolism in a Patient with Hereditary Galactokinase Deficiency

1974; Wiley; Volume: 4; Issue: 1 Linguagem: Inglês

10.1111/j.1365-2362.1974.tb00376.x

1365-2362

R Gitzelmann, Henry J. Wells, Stanton Segal,

Neonatal Health and Biochemistry

Abstract. The ability of a galactokinase deficient patient to metabolize galactose, galactitol and galactonate was quantitated. In galactokinase deficiency, conversion of galactose to CO 2 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 14 CO 2 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.