A 3-day-old boy is brought to the office due to poor feeding, vomiting, and progressive lethargy. The parents also report that his diapers have a "burnt sugar smell" differing from their previous children's diapers. The mother and infant were discharged from the hospital yesterday after a normal pregnancy and spontaneous vaginal delivery. The mother is exclusively breastfeeding. Her other 2 children are healthy and have no medical problems. Physical examination shows a lethargic infant with dry mucous membranes and generalized hypertonia. Which of the following should be restricted from this infant's diet?

Question

A 3-day-old boy is brought to the office due to poor feeding, vomiting, and progressive lethargy.  The parents also report that his diapers have a "burnt sugar smell" differing from their previous children's diapers.  The mother and infant were discharged from the hospital yesterday after a normal pregnancy and spontaneous vaginal delivery.  The mother is exclusively breastfeeding.  Her other 2 children are healthy and have no medical problems.  Physical examination shows a lethargic infant with dry mucous membranes and generalized hypertonia.  Which of the following should be restricted from this infant's diet?

Quizplus · Accepted Answer

Eductional Objective: Maple syrup urine disease classically presents with irritability, dystonia, poor feeding, and a "maple syrup" scent to the patient's urine within the first few days of life.  Dietary restriction of branched-chain amino acids (eg, leucine, isoleucine, valine) is the hallmark of treatment.

A 3-Day-Old Boy Is Brought to the Office Due to Poor