A mouse model of galactose-1-phosphate uridyl transferase deficiency.
Galactose-1-phosphate uridyl transferase (GALT) deficiency causes classical galactosemia in humans. Mice deficient in this enzyme were created by gene targeting. GALT-deficient mice develop biochemical features similar to those seen in humans with GALT deficiency, but fail to develop the pattern of acute toxicity seen in newborns with classical galactosemia. This study suggests that alternative routes of galactose metabolism are important in the pathogenesis of galactosemia.
Leslie
N D
ND
Division of Human Genetics Children's Hospital Research Foundation, Cincinnati, Ohio 45229, USA.
Yager
K L
KL
McNamara
P D
PD
Segal
S
S
D000818:Animals; D018076:DNA, Complementary / Q000737:chemistry; D004195:Disease Models, Animal; D005260:Female; D005693:Galactosemias / Q000201:enzymology* / Q000235:genetics; D006579:Heterozygote; D008099:Liver / Q000201:enzymology; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D010641:Phenotype; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency* / Q000235:genetics
D018076:DNA, Complementary; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase