Friday, February 22, 2008

Burnt Caramel

You're about to leave the path lab when the attending hands you a urine sample. "Smell this," she says.
"Are you out of your mind?" You almost ask. Instead, you say, "As you wish." After all, you really want that UCSF pathology residency.
The urine smells weird, almost like burnt caramel. "Diabetes?" you ask.
"Nope, it is pretty sweet smelling though. It came from a newborn. We need to put him on a special diet to prevent neurological damage."

Challenge: What restrictions will be put on the infant's diet? There are three specific things to avoid.

Related Questions:
1. What is this disease?
2. This disease has higher prevalence in those with a specific religion. What would this be?


Alex said...

looked it up and found amish

would've guessed ashkanazi jew otherwise.

Craig said...

Burnt Caramel

The infant has maple syrup urine disease which is a deficiency of branched chain alpha keto acid dehydrogenase (the disease is also called branched chain ketoaciduria). This enzyme is necessary to break down branched chain amino acids leucine, isoleucine, and valine. This is an autosomal recessive metabolic disorder and is characterized by a sweet-smelling urine with an odor similar to maple syrup or burnt caramel. If untreated, patients may suffer severe brain damage. There is a higher prevalence in children of Amish or Mennonite descent (Christian Anabaptist denomination). Other symptoms include poor feeding, vomiting, lethargy, and seizures. Treatment includes a diet with minimal leucine, isoleucine, and valine.

Source: Wikipedia.