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
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