An infant presents with vomiting after feeding. A Benedict test was performed and returned positive for a non-glucose substance. Which is the most likely diagnosis?

Options

1. Galactosemia due to GAL-1-P uridyl transferase deficiency
2. Hereditary fructose intolerance due to aldolase B deficiency
3. G6PD deficiency
4. Galactosemia due to galactokinase deficiency

Correct Answer

Galactosemia due to GAL-1-P uridyl transferase deficiency

Explanation

Classic galactosemia is caused by deficiency of galactose-1-phosphate uridyl transferase. Benedict test is positive for reducing substances (galactose) but glucose oxidase test is negative. Presents with vomiting, jaundice, and hepatomegaly in neonates.

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