Audio Qbank – HY USMLE Q #352 – Pediatrics / Biochemistry

A 1-month-old girl is brought to the physician because of poor feeding and failure to thrive. She is exclusively breastfed. Physical examination shows cataracts, jaundice, and hepatomegaly. Serum studies show hypoglycemia. Urinalysis shows the presence of reducing sugars. Deficiency of which of the following enzymes is the most likely explanation for these findings?

Aldolase B
Fructokinase
Galactokinase
Galactose-1-phosphate uridyltransferase
Glucose-6-phosphatase