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Beginning August 1, 2023, the University of Utah Department of Pathology and ARUP Laboratories will no longer host this mutation database. Our clinical variant data will be consolidated and shared with free publicly accessible databases such as ClinVar. For any questions or concerns related to the removal of this database from our website, please click here and one of our molecular genetics medical directors will review your submission and get back to you.

Galactose-1-Phosphate Uridyl Transferase (GALT)  Genetics Home Reference

Initial release: October 2006
Last update: November 2021

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 2006697.

Submissions to the database can be made here.

Database Information

The GALT database currently archives 363 total entries.

Citations

When citing in publications please use:

Calderon FR, Phansalkar AR, Crockett DK, Miller M, Mao R. Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene. Hum Mutat. 2007 Oct;28(10):939-43.

Database URL:

http://arup.utah.edu/database/GALT/GALT_welcome.php