A 5-day-old infant is brought to the emergency department due to abnormal body movements. He has had intermittent episodes of tonic posturing over the past 3 hours as well as poor feeding, vomiting, and irritability for the past 2 days. The mother also reports that his diapers smell like "caramelizing sugar." There are no known medical problems in the family, but the child's maternal aunt died "sometime in the first year" of life from unknown causes. Examination shows a lethargic infant with intermittent posturing episodes and increased generalized muscle tone. Laboratory studies of plasma and urine confirm the diagnosis. In addition to appropriate dietary restriction, supplementation with which of the following may improve this infant's condition?

Question

A 5-day-old infant is brought to the emergency department due to abnormal body movements.  He has had intermittent episodes of tonic posturing over the past 3 hours as well as poor feeding, vomiting, and irritability for the past 2 days.  The mother also reports that his diapers smell like "caramelizing sugar."  There are no known medical problems in the family, but the child's maternal aunt died "sometime in the first year" of life from unknown causes.  Examination shows a lethargic infant with intermittent posturing episodes and increased generalized muscle tone.  Laboratory studies of plasma and urine confirm the diagnosis.  In addition to appropriate dietary restriction, supplementation with which of the following may improve this infant's condition?

Quizplus · Accepted Answer

Eductional Objective: Branched-chain alpha-ketoacid dehydrogenase requires several coenzymes: Thiamine, Lipoate, Coenzyme A, FAD, NAD (mnemonic: Tender Loving Care For Nancy). Some patients with maple syrup urine disease improve with high-dose thiamine treatment, but most require lifelong restriction of leucine, isoleucine, and valine.

A 5-Day-Old Infant Is Brought to the Emergency Department Due