Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.

Abstract

The galactosemias are a series of three inborn errors of metabolism caused by deficiency of any one of the three human galactose-metabolic enzymes: galactokinase (GALK), galactose-1-phosphate uridyl transferase (GALT), and UDP-galactose 4' epimerase (GALE). We report here the characterization of the entire coding sequence of the GALE gene and screening for mutations in epimerase-deficient individuals. The human GALE gene is about 4 kb in size and is divided into 11 exons on chromosome band 1p36. We have identified five mutations in the GALE gene of epimerase-deficient galactosemia patients. The patients were either homozygotes or compound heterozygotes for mutations. These results confirm that epimerase-deficiency galactosemia is the result of missense mutations in the GALE gene and indicate that the disease is characterized by extensive allelic heterogeneity.

• Authors: P Maceratesi, N Daude, B Dallapiccola, G Novelli, R Allen, Y Okano, J Reichardt
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 63 Issue 1 Pg. 26-30 (Jan 1998) ISSN: 1096-7192 [Print] United States
• PMID: 9538513 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• UDPglucose 4-Epimerase

Topics

• Base Sequence
• Chromosome Mapping
• Cloning, Molecular
• DNA Mutational Analysis
• Galactosemias (genetics)
• Gene Frequency
• Heterozygote
• Humans
• In Situ Hybridization, Fluorescence
• Molecular Sequence Data
• Mutation
• Sequence Analysis, DNA
• UDPglucose 4-Epimerase (deficiency, genetics)