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

Patrizia Maceratesi, Natalie Daude, Bruno Dallapiccola, Giuseppe Novelli, Richard Allen, Yoshiyuki Okano, Juergen Reichardt

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)26-30
Number of pages5
JournalMolecular Genetics and Metabolism
Volume63
Issue number1
DOIs
Publication statusPublished - Jan 1998

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

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