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.
Submissions to the database can be made here.
The GALT database currently archives 264 total entries.
When citing in publications please use: