Galactosemia - Types

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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