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?: (A) Hereditary Fructose intolerance, (B) Phenylketonuria, (C) Galactosemia, (D) Von Gierke disease
Answer is C. 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.