A 3 day neonate has refusal to feeding and gets with vomiting on forceful feeding. There is also abdominal distension. Urine Benedict’s test is positive. Which of the following Reducing substance is likley to be found in urine?
**Core Concept**
Newborns with refusal to feed, vomiting, and abdominal distension, along with a positive urine Benedict's test, suggest a diagnosis of congenital hypoglycemia, which may be due to an underlying metabolic disorder. The presence of reducing substances in the urine, as detected by the Benedict's test, points towards a specific type of carbohydrate metabolism disorder.
**Why the Correct Answer is Right**
The correct answer is likely galactose, which is a reducing sugar. This is because the neonate is likely suffering from galactosemia, a genetic disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). In this condition, the body is unable to properly metabolize galactose, leading to its accumulation in the blood and subsequent excretion in the urine. The positive urine Benedict's test is a classic finding in galactosemia due to the presence of reducing sugars like galactose.
**Why Each Wrong Option is Incorrect**
**Option A:** Fructose is not typically associated with a positive urine Benedict's test, as it is not a reducing sugar.
**Option B:** Lactose is a disaccharide composed of glucose and galactose, but it is not directly detected by the Benedict's test.
**Option C:** Glucose is a reducing sugar, but its presence in the urine is typically associated with hyperglycemia, not galactosemia.
**Clinical Pearl / High-Yield Fact**
Galactosemia is a classic example of a congenital metabolic disorder that can be diagnosed through the detection of reducing substances in the urine. It is essential to suspect this condition in newborns with unexplained hypoglycemia and refusal to feed.
**Correct Answer:** C.