TY - JOUR
T1 - Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia
AU - Maceratesi, Patrizia
AU - Daude, Natalie
AU - Dallapiccola, Bruno
AU - Novelli, Giuseppe
AU - Allen, Richard
AU - Okano, Yoshiyuki
AU - Reichardt, Juergen
PY - 1998/1
Y1 - 1998/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0031669072&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031669072&partnerID=8YFLogxK
U2 - 10.1006/mgme.1997.2645
DO - 10.1006/mgme.1997.2645
M3 - Article
C2 - 9538513
AN - SCOPUS:0031669072
VL - 63
SP - 26
EP - 30
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
SN - 1096-7192
IS - 1
ER -