Premium
Galactose Metabolism in a Patient with Hereditary Galactokinase Deficiency
Author(s) -
Gitzelmann Richard,
Wells Henry J.,
Segal Stanton
Publication year - 1974
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1111/j.1365-2362.1974.tb00376.x
Subject(s) - galactitol , galactokinase , galactose , galactosemia , biochemistry , metabolism , chemistry , mutant , urine , escherichia coli , gene
. 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.