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What is A 3 day child vomits everything he feeds, has a distended abdomen & diarrhoea. The urine is positive for benedicts test for reducing substance. The substance in urine is - and explain in detail?
Ans. is 'c' i.e., Galactose Characteristic symptom i.e., vomiting, distended abdomen and diarrhea along with the presence of reducing substance in the urine suggests the diagnosis of galactosemia Galactosemia o Galactosemia is a group of metabolic disorders which occurs due to defect in metabolism of galactose. There is inability to metabolise galactose which may be caused by deficiency of any of the following enzymes: (i) Galactose-1 phosphate uridyl transferase (most common) (ii) UDP-galactose--> epimerase Galactokinase