In children with classical galactosemia all are true except:
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
E. coli neonatal sepsis is common
Elimination of galactose in diet will not reverse cataract
Galactose conves to galactitol which is toxic to brain
Children with Duae variant of galactosemia are asymptomatic
Disorders of Carbohydrate Metabolism