FCPS Part 1
Branched-chain amino acid metabolism and maple syrup urine disease
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Q1
A 7-day-old newborn is brought to the emergency department with poor feeding, recurrent vomiting, lethargy, and seizures...
Q2
Maple syrup urine diseases is an inborn error of metabolism Which enzyme is deficient?
Q3
A patient presents with mental retardation and urine that has a burnt sugar-like smell. The likely diagnosis is?
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