Types
Galactose is converted into glucose by the action of three enzymes, known as the Leloir pathway. There are diseases associated with deficiencies of each of these three enzymes:
Type | Diseases Database | OMIM | Gene | Locus | Enzyme | Name |
Type 1 | 5056 | 230400 | GALT | 9p13 | galactose-1-phosphate uridyl transferase | classic galactosemia |
Type 2 | 29829 | 230200 | GALK1 | 17q24 | galactokinase | galactokinase deficiency |
Type 3 | 29842 | 230350 | GALE | 1p36-p35 | UDP galactose epimerase | galactose epimerase deficiency, UDP-Galactose-4-epimerase deficiency |
Read more about this topic: Galactosemia
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