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What is A newborn baby refuses breast milk since the second day of birth, vomits on force-feeding but accepts glucose-water, develops diarrhea on third day, by fifth day she is jaundiced with liver enlargement and eyes show cataract. Urinary reducing sugar was positive but blood glucose estimated by glucose oxidation method was found low. The most likely cause is deficiency of: and explain in detail?
Ans. A. Galactose 1 phosphate uridyl transferase(Ref: Harper 31/e page 191)Classic galactosemia is a serious disease with onset of symptoms typically by the 2nd half of the 1st week of life.With jaundice, vomiting, seizures, lethargy, irritability, feeding difficulties, poor weight gain or failure to regain birth weight.Hepatomegaly oil drop cataracts, Hepatic failureMental retardationPatients with galactosemia are at increased risk for Escherichia coli neonatal sepsis.Other optionsBeta Galactosidase is lactase.In Galactokinase deficiency the sole manifestation is Cataract.Glucose 6 Phosphate deficiency is Von Gierke's disease.