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Pediatrics Disorders of Carbohydrate Metabolism 63f37b72

In children with classical galactosemia all are true except:

A
E. coli neonatal sepsis is common
B
Elimination of galactose in diet will not reverse cataract
C
Galactose conves to galactitol which is toxic to brain
D
Children with Duae variant of galactosemia are asymptomatic
High-Yield Explanation
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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