Wednesday, April 11, 2012

Genetic consult 10:12am April 11th

We just got a visit from one of the geneticists at Children's Hospital.  She stopped in because on one of their blood draws one of his amino acid levels was slightly elevated which can be indicative of a genetic disorder called Maple Syrup Urine Disease (MSUD).  MSUD is a condition where the body is incapable of metabolizing certain amino acids.  They aren't really worried that Owen has this because he is on Total Parenteral Nutrition (TPN) which can affect the numbers in the blood.  To check if Owen has MSUD, they are taking him off of TPN for 24 hours to get an accurate representation of amino acid levels in his blood.

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