4-month-old Boy in Pediatrics — Case | Pediatric Gastroenterology | SMLE Q#669

SMLE Question #669

Pediatrics Pediatric Gastroenterology
Last updated: February 2026
A 4-month-old boy has poor weight gain and recurrent episodes of vomiting and lethargy after feeds. Newborn screening was inconclusive, and an inborn error of carbohydrate metabolism is suspected. His mother asks which investigation is most helpful to confirm a disorder causing urinary excretion of unmetabolized monosaccharides. Which test has the highest diagnostic value?

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