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