Galactosemia laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]

Laboratory Findings

Direct evidence

• Absent/decreased activity of galactose-1-phosphate uridyl transferase/galactokinase/epimerase in blood
• Increased concentration of galactose-1-phosphate in RBCs
• Raised levels of galactose in blood and urine

Indirect evidence

• Active/recurrent sepsis, usually by E.coli: Polymorphonuclear leukocytosis, elevated CRP, E.coli isolated from blood culture