Analysis of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene in a Duarte Variant/classical Galactosemia (D/G) Compound Heterozygote.
- Author:
Hye Ran YANG
1
;
Jeong Eun KIM
;
Jae Sung KO
;
Jung Han SONG
;
Sung Sup PARK
;
Jeong Kee SEO
Author Information
1. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. jkseo@snu.ac.kr
- Publication Type:Case Report
- Keywords:
Galactosemia;
Galactose-1-phosphate uridyltransferase gene;
N314D;
-119~-116 delGTCA;
D/G heterozygote
- MeSH:
Alleles;
Erythrocytes;
Galactosemias*;
Heterozygote*;
UTP-Hexose-1-Phosphate Uridylyltransferase*
- From:Korean Journal of Pediatric Gastroenterology and Nutrition
2003;6(1):84-89
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Galactosemia is a rare autosomal recessive disorder caused by the deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme activity. Classic galactosemia (G/G) is due to severe GALT deficiency in the presence of a GALT gene mutation, whereas Duarte variant (D/D) has 50% of normal GALT activity and benign clinical course. The D2 allele of Duarte variant is linked to a promoter deletion 5' to the translation start site (-119 to -116 delGTCA) in addition to N314D. So, Duarte variant/classical galactosemia (D/G) compound heterozygotes have relatively mild clinical manifestation than classical galactosemia and can be differentiated from classical galactosemia or Duarte variant by mutational analysis. We report a case of D/G galactosemia compound heterozygote proven by the reduction of GALT enzyme activity in erythrocytes and mutation analysis of GALT gene, which revealed N314D polymorphism and -119 to -116 delGTCA.
