History of dislike for sweet food items is typically present in:
AGlycogen storage disease
BDiabetes mellitus
CGalactosemia
DHereditary fructose intolerance
An 8-month-old infant is brought in with poor feeding, lethargy, hypotonia, and hepatomegaly. Labs reveal hypoglycemia and metabolic acidosis. Which condition is most likely?
AHereditary fructose intolerance
BGalactosemia
CPompe disease
DVon Gierke disease
EMedium-chain acyl-CoA dehydrogenase (MCAD) deficiency
A cataract formation in both eyes was discovered in a 1-year-old child during a routine well-child visit, with blood tests showing elevated galactose and galactitol levels. To determine which enzyme might be defective in the child, which intracellular metabolite should be measured?
AGalactose
BFructose
CGlucose
DGalactose-1-phosphate
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