A 3-day-male baby vomits everything he feeds, has a distended abdomen and diarrhea. On examination, he has bilateral cataract. The urine is positive for Benedict's test for reducing substance. Which of the following is the probable underlying diagnosis?
The given clinical features:- Vomiting Abdominal distension Diarrhea Presence of reducing substance in urine, in a 3-day-old neonate, who is probably on exclusive breast feeding, suggests diagnosis of Galactosemia. In a confirmed case of galactosemia- breast milk is contraindicated Lactose breaks down to glucose & galactose- galactose cannot be digested in Galactosemia.
Hereditary Fructose intolerance
Phenylketonuria
Galactosemia
Von Gierke disease
Disorders of Carbohydrate Metabolism