Maple Syrup Urine Disease

So I was studying just now and realized that some of the things I've learned in school are actually really fascinating. Sometimes I forget that I didn't know any of it before coming here. With that in mind, I'm going to combine my studying with my blogging just this once. If you like it, don't praise this post too much or I'll just make this a study blog.

Today's Topic: Maple Syrup Urine Disease
Can you imagine having a baby, and maybe a week after coming home from the hospital you start noticing that every time you change the diaper, you smell maple syrup. This is a real disease that makes untreated babies' urine smell like maple syrup.
What's going on? Some amino acids (protein building blocks) have branched carbon chains instead of straight carbon chains. If you don't have the enzyme 'branched-chain alpha-ketoacid dehydrogenase', your body can't break these branched chains down. They start to accumulate in your body until they start spilling out into your urine. The branched chain amino acids smell like maple syrup.

If this happens, it is important to take baby to the doctor and get evaluated. A baby diagnosed with MSUD needs to spend the rest of their life avoiding foods with branched chain amino acids, allowing them to live a long fulfilling life. Otherwise the buildup causes severe neurologic impairment and death which is very sad.

There you have it. One of the amazing diseases I only learned existed in the last couple years.


Janelle said...

this is pretty cool, and weird, eh? um, please blog more often.

Brittany Anne Nielsen said...

strange! any link to fenugreek? if you take it to boost your milk production while nursing, it has that same maple syrup smell.