Sunday, February 19, 2012

Disorders of galactose metabolism

  1. Enzymes defect and Severity:
    • Classic GALACTOSEmia: GALACTOSE-1-phosphate uridyltransferase. MORE SEVERE= ENZYME NAME LONGER
    • GALACTOKINASE deficiency: GALACTOKINASE
    • Remember: KINASES deficiencies in galactose and fructose metabolism are mild-benign  diseases

No comments:

Post a Comment