Classical galactosemia is caused by a deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase (GALT), which, in turn, is caused by mutations at the GALT gene. The disorder exhibits considerable allelic heterogeneity and, at the end of 1998, more than 150 different base changes
Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene
โ Scribed by Coffee, Bradford; Hjelm, Lawrence N; Delorenzo, Angela; Courtney, Ebony M; Yu, Chunli; Muralidharan, Kasinathan
- Book ID
- 125805634
- Publisher
- Nature Publishing Group
- Year
- 2006
- Tongue
- English
- Weight
- 1005 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1098-3600
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๐ SIMILAR VOLUMES
Galactosemia is an inborn error of galactose metabolism secondary to deficiency of galactose-1-phosphate uridyl transferase (GALT). GALT is a polymorphic enzyme and Duarte (D) is the most common enzyme variant. This variant is characterized by faster electrophoretic mobility and reduced activity. Du
A newborn male was diagnosed as having a duplication of distal 9p material by GTG banding analysis. Gene dose studies for galactose-1-phosphate uridyl transferase (GALT) were performed on the patient, his mother (the balanced translocation carrier), a 3-year-old 47,XY +9p male control, a 30-year-old