In children with classical galactosemia all are true except:
Correct Answer: Elimination of galactose in diet will not reverse cataract
Description: E. coli sepsis is common and the onset often precedes the diagnosis of galactosemia Elimination of galactose reverse growth failure, cataract, renal and hepatic dysfunction Galactokinase deficiency -> accumulation of galactose and galactitol Duae variant- a single amino acid substitution, has 50% of normal enzyme activity- asymptomatic
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Pediatrics
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