Classical galactosemia is an inborn error of metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT). Standard treatment with dietary galactose restriction will reverse the potentiall
Galactose-1-phosphate uridyltransferaseGALTMedicine(GeneralBackground Classic galactosemia (OMIM #230400) is an autosomal recessive metabolic disorder caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT, EC2.7.7.12) protein due to mutations in the GALT gene. The aim of this ...
When galactose-1-phosphate uridyltransferase (GALT) (E.C. 2.2.2.10) is deficient, as in humans with galactosemia, alternate routes of galactose disposal assume a more important role [1], [2], [3]. Galactitol, formed from galactose by aldose reductase (E.C. 1.1.1.21) has been isolated ...
UDP glucose:α-D-galactose-1-phosphate uridyltransferase GALT 基本信息 Enzyme Commission (EC) Number【酶学委员会(EC)编号】 2.7.7.12 ( BRENDA | IUBMB ) MDL number MFCD00131120 NACRES NA.54 Biochem/physiol Actions【生化/生理作用】 Galactose-1-phosphate uridyltransferase (GALT) facilitates the simu...
Galactose-1-phosphate uridyltransferase deficiency galactose-6-sulfatase Galactose-6-sulfate sulfatase galactose-6-sulfurase Galactose-Inhibitable Adherence Protein Galactose-specific lectin 3 galectin-3 ▼ Complete English Grammar Rules is now available in paperback and eBook formats. ...
Talman, E.L. 1969:A mechanism for galactose 1 phosphate accrual in galactose cataract effect of galactose upon lenticular galactose 1 phosphate uridyl transferase and udp glucose pyro phosphorylase activitiesPhysiological Chemistry-Physics 1(3): 255-262 ...
Confirmation of the assignment of the gene for galactose-1-phosphate uridyltransferase (E.C.2.7.7.12) to human chromosome 9. Cytogenet Cell Genet 1979;24: 37-42.Benn PA, D'Ancona GG, Croce CM, Shows TB, Mellman WJ. Confirmation of the assignment of the gene for galactose-1-phosphate ...
galtphosphateputscreenuridyltransferase8277582775Galactose-1-phosphate uridyltransferase is a blood test that measures the level of a substance called GALT, which helps break down milk sugars in your body. Low levels of this substance cause a condition called galactosemia.A.D.A.M. Editorial Board...
Galactosemia is an inborn error of metabolism in humans due to deficient activity of the enzyme galactose-1 -phosphate uridyl-transferase (GALT). Using a 1.3 kb Bam HI restriction fragment of the human GALT cDNA as a probe, three cDNAs, 786 bp, 265 bp and 1.4 kb were isolated from a ...
The ability of EB virus-transformed lymphoblasts with undetectable galactose-1-phosphate uridyltransferase (GALT) from 15 galactosaemic patients to oxidize [1-(14)C]galactose to 14CO2 was compared to that of cells from 7 normal subjects. The oxidation of galactose but not of glucose was ...