Saturday, January 17, 2009

Lesch-Nyhan

Big day of studying today--I'm being so good! I have a metabolism test on Tuesday, and it's going to be a real bitch. So many pathways, so many enzymes...During a lecture last week, our professor actually told us that our heads were probably going to explode. Comforting!

Just reading about a genetic disorder called Lesch-Nyhan syndrome--creepy one. It has to do with a defective enzyme that causes a buildup of uric acid in the body. It usually presents in early childhood, and patients have mental retardation, gout-like symptoms, and severe hostility. But the really weird symptom is a tendency toward self mutilation--patients eat off their own fingers, toes, lips, etc. Strange one!

I hope everyone is staying warm today--I'm bundled up like a snowman in my frigid little house and my fingers are freezing! Later folks!

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