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Showing posts from December, 2010

OTC Deficiency - A Genetic Abnormality

My husband likes to tease and tell people that I'm a mutant.  It's not really wrong.  It's true!  I'm missing an enzyme that tells the body how to metabolize (use) protein properly. 

There's a name for what I have.  Don't worry, I don't expect you to remember it.  It's Ornithine Transcarbamylase Deficiency, typically denoted as OTC Deficiency.  If you really want to remember it, just think OTC - Over The Counter.  If you watch House, you might have heard of it.  In the very first season, one of the characters had OTC Deficiency.  I didn't see it, but apparently it had to do with a man who got sick, his brother snuck a steak into the hospital for him to eat, and then he got much more sick!

I've known about this since I was 4.  I have this lovely family memory of going to Ponderosa (does Ponderosa exist anymore?) and getting to eat jello while none of the adults cared what the kids ate.  It was nearly the whole family on my mom's side there..…