VB
Vikas Bhardwaj
Medical Technologist, AIIMS New Delhi
Updated: Apr 17, 2026
**Core Concept**
The case describes a newborn baby presenting with symptoms of feeding refusal, vomiting, diarrhea, jaundice, liver enlargement, cataract, and positive urinary reducing sugar with low blood glucose. This constellation of symptoms is suggestive of a congenital metabolic disorder affecting glucose metabolism.
**Why the Correct Answer is Right**
The symptoms described are characteristic of Congenital Galactosemia, a genetic disorder caused by the deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme. This enzyme is crucial for the conversion of galactose to glucose in the liver. When galactose enters the body, it is converted to galactose-1-phosphate, which is then transferred to UDP-glucose by the GALT enzyme. Without this enzyme, galactose-1-phosphate accumulates, causing damage to the liver, kidneys, and eyes. The consumption of lactose-containing breast milk leads to the accumulation of galactose in the bloodstream, resulting in the symptoms described.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is not provided in the question. Please ensure the question has all options before providing an explanation.
**Option B:** This option is not provided in the question. Please ensure the question has all options before providing an explanation.
**Option C:** This option is not provided in the question. Please ensure the question has all options before providing an explanation.
**Clinical Pearl / High-Yield Fact**
The key to diagnosing Congenital Galactosemia lies in the presence of a positive urinary reducing sugar test with low blood glucose levels despite the consumption of glucose-containing fluids. This unique combination of symptoms should prompt the clinician to suspect a congenital metabolic disorder affecting glucose metabolism.
**Correct Answer:** C. Galactosemia