What does GALE stand for?
GALE stands for UDP-galactose 4-epimerase
This definition appears very rarely
See other definitions of GALE
Samples in periodicals archive:
Mediators of galactose sensitivity in UDP-galactose 4'-epimerase.
Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.
The initial stage is the conversion of ß-D-galactose to a-D-galactose by the enzyme, mutarotase (GALM). The Leloir pathway then carries out the conversion of a-D-galactose to UDP-glucose via three principle enzymes. Galactokinase (GALK) phosphorylates a-D-galactose to galactose-1-phosphate, or Gal-1-P. Galactose-1-phosphate uridyltransferase (GALT) then transfers a UMP group from UDP-glucose to Gal-1-P to form UDP-galactose. Finally, UDP galactose-4’-epimerase.
AI323962; 2310002A12Rik; UDP-galactose 4-epimerase.
UDP-galactose 4’-epimerase (GALE) enzyme activity can be measured in red blood cells (RBCs) either directly or indirectly. GALE is the only gene in which mutations are known to be associated with epimerase deficiency galactosemia. Of note, finding impaired GALE activity in RBC does not distinguish between the clinically severe generalized and milder intermediate or peripheral forms of epimerase deficiency.