| galactokinase | <enzyme> An enzyme that catalyses reversibly the formation of galactose 1-phosphate and ADP from ATP and d-galactose. Galactosamine can also act as the acceptor. A deficiency of this enzyme results in galactosaemia. Chemical name: ATP:D-galactose 1-phosphotransferase Registry number: EC 2.7.1.6 (12 Dec 1998) |
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| galactokinase deficiency | An inborn error of metabolism due to congenital deficiency of galactokinase, resulting in increased blood galactose concentration (galactosaemia), cataracts, hepatomegaly, and mental deficiency; autosomal recessive inheritance. Galactose epimerase deficiency and galactose-1-phosphate uridyl transferase deficiency produce much the same clinical picture. (05 Mar 2000) |
| galactokinase deficiency galactosaemia | An autosomal recessive disorder resulting in an accumulation of galactose and galactitol. (05 Mar 2000) |