All of the following are true about Galactosemia EXCEPT?
Patients with Galactosemia are usually normal at bih & become symptomatic after 3-4 days of breast milk or formula feeding. Cause by deficiency of: GALT (Galactose 1 PO4 uridyl transferase) Galactokinase Epimerase Results in accumulation of Galactose-1-phosphate and galactitol which have toxic effects on various organs (Liver, eye) Breast feeding is contraindicated in confirmed cases of galactosemia Sepsis with E.coli is common in children with galactosemia In Galactosemia, Urine for reducing substances is positive (Done by Benedict's test)
Galactose 1 phosphate and galactitol have toxic effects on various organs
Patients are symptomatic immediately after bih
Jaundice and liver dysfunction commonly seen
E.coli sepsis is an impoant cause of moality
Disorders of Carbohydrate Metabolism