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 0051346.
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Submissions to the database can be made from the submissions tab above.
The GALT database currently archives 239 total entries.
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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. Hum Mutat. 2007 Oct;28(10):939-43.
Please link to the following URL:
http://www.arup.utah.edu/database/galactosemia/GALT_welcome.php
Initial release: October 2006
Last update: September 2009