galactokinase deficiency

galactokinase

[gah-lak″to-ki´nās] an enzyme that catalyzes the first step in the metabolism of galactose, the transfer of a phosphate group from ATP to galactose, producing galactose-1-phosphate.galactokinase deficiency a rare type of galactosemia transmitted as an autosomal recessive trait, caused by a deficiency of galactokinase. The only clinical manifestation is the development of cataracts during the first year of life, which can be prevented by a low-galactose diet.

ga·lac·to·ki·nase de·fi·cien·cy

[MIM*230200] an inborn error of metabolism due to congenital deficiency of galactokinase (GALK), resulting in increased blood galactose concentration (galactosemia), cataracts, hepatomegaly, and mental deficiency; autosomal recessive inheritance, caused by mutation in the GALK gene on 17q. Galactose epimerase deficiency [MIM*230350] and galactose-1-phosphate uridyl transferase deficiency [MIM*230400] produce much the same clinical picture.

单词	galactokinase deficiency
释义	EncyclopediaSeegalactokinase galactokinase deficiency galactokinase [gah-lak″to-ki´nās] an enzyme that catalyzes the first step in the metabolism of galactose, the transfer of a phosphate group from ATP to galactose, producing galactose-1-phosphate.galactokinase deficiency a rare type of galactosemia transmitted as an autosomal recessive trait, caused by a deficiency of galactokinase. The only clinical manifestation is the development of cataracts during the first year of life, which can be prevented by a low-galactose diet. ga·lac·to·ki·nase de·fi·cien·cy [MIM230200] an inborn error of metabolism due to congenital deficiency of galactokinase (GALK), resulting in increased blood galactose concentration (galactosemia), cataracts, hepatomegaly, and mental deficiency; autosomal recessive inheritance, caused by mutation in the GALK* gene on 17q. Galactose epimerase deficiency [MIM230350] and galactose-1-phosphate uridyl transferase deficiency [MIM230400] produce much the same clinical picture.
随便看	rouse them to do rouse to rouse to do rouse us from rouse us out of rouse us to rouse us to do rouse you from rouse you out of rouse you to rouse you to do rous, f peyton rous, f. peyton rous, francis peyton rousing rousing from rousing her from rousing her out of rousing her to rousing her to do rousing him from rousing him out of rousing him to rousing him to do rousingly