Pathophysiology of MSUD

Youtube video made by Children's Hospital of Pittsburg. https://www.youtube.com/watch?v=NBXYmD3wUwU



 This video pertains to the pathophysiology of MSUD. Here is a photo from the University of Utah from their webpage Learn.Genetics. The image below helps give a visual picture about what Dr. George Mazariegos was explaining in the video. The BCKD is the important enzyme he mentioned in the video that a person's body cells with MSUD is missing. This important enzyme, BCKD, helps in the break down of the three amino acids shown below. When these three amino acids are not broken down it causes problems to arise in the body. Toxins begin to build up which leads to serious conditions and even mortality.

Picture taken from learn.genetics.utah.edu (University of Utah Health and Sciences)

Picture taken from learn.genetics.utah.edu (University of Utah Health and Sciences)

  

How does an infant contract MSUD?
This picture above helps to explain how a child contracts MSUD. For a child to develop MSUD both the child's parents have to be carriers of the mutated gene known as BCKD. BCKD is a six protein complex that helps break down the three amino acids that a person with MSUD can't break down. For more in depth information check out the University of Utah's webpage: http://learn.genetics.utah.edu/content/disorders/singlegene/msud/