Galactose-1-Phosphate Uridyl Transferase (GALT)
Classic Galactosemia (OMIM# 230400) is an inherited autosomal recessive disorder of galactose metabolism, caused by mutations in the galactose-1-phosphate uridyl-transferase (GALT) gene.
The aim of this database is to record all mutations and polymorphisms identified within this gene, as well as any associated clinical information relating to the mutation (Genebank accession number)M96264.1 or cDNA M60091.1).
Full gene sequence analysis for the GALT gene is offered as ARUP Test Code:0051346
Search GALT Database
Citation
Fernanda R.O. Calderon, Amit R. Phansalkar, David K. Crockett, Martin Miller, Rong Mao.
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
Human Mutation. Volume 28, Issue 10, Pages 939-943, October 2007
Please link to the following URL:
http://www.arup.utah.edu/database/galactosemia/GALT_welcome.php