The Genetic Defect in Galactosemia
- 3 April 1975
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 292 (14) , 737-740
- https://doi.org/10.1056/nejm197504032921408
Abstract
GALACTOSE-1-PHOSPHATE uridylytransferase (E.C. 2.7.7.12—subsequently referred to as "transferase") is the enzyme whose function is markedly, if not totally, deficient in the commonly recognized form of galactosemia — an inborn error of metabolism that was described as a clinical entity in 1908 and defined as resulting from a specific enzyme defect in 1956.1 Of all the enzymes involved in human genetic disease, this one has been particularly responsive to the combined attacks of biochemistry and genetics. Enough has been learned about this enzyme to enable a description of its mechanism of action in molecular terms, as well as a look at . . .Keywords
This publication has 5 references indexed in Scilit:
- Galactose-1-phosphate uridylyltransferase. Rate studies confirming a uridylyl-enzyme intermediate on the catalytic pathwayBiochemistry, 1974
- Human Galactose 1-Phosphate UridyltransferaseJournal of Biological Chemistry, 1972
- Two Decades of Research on Biosynthesis of SaccharidesScience, 1971
- Liver galactose-l-phosphate uridyl transferase: activity in normal and galactosemic subjectsJournal of Clinical Investigation, 1971
- Galactosemia, a congenital defect in a nucleotide transferaseBiochimica et Biophysica Acta, 1956