The Story of three brothers. MSUD is a potentially deadly disorder that affects the way the body breaks down three amino acids, leucine, isoleucine, and.

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Presentation transcript:

The Story of three brothers

MSUD is a potentially deadly disorder that affects the way the body breaks down three amino acids, leucine, isoleucine, and valine. When they're not being used to build a protein, these three amino acids can be either be recycled or broken down and used for energy. They are normally broken down by six proteins that act as a team and form a complex called BCKD (branched-chain alpha-ketoacid dehydrogenase).

People with MSUD have a mutation that results in a deficiency for one of the 6 proteins that make up this complex. Therefore, they can't break down leucine, isoleucine, and valine. They end up with dangerously high levels of these amino acids in their blood, causing the rapid degeneration of brain cells and death if left untreated. Defects in any of the six subunits that make up the BCKD protein complex can cause the development of MSUD. The most common defect is caused by a mutation in a gene on chromosome 19 that encodes the alpha subunit of the BCKD complex (BCKDHA).

Its being proposed that therapy with sodium phenyl acetate/benzoate or sodium phenyl butyrate in MSUD patients has been associated with a selective reduction in branched-chain amino acids (BCAA) in spite of adequate dietary protein intake.

 To use phenyl butyrate as a drug in lowering BCAA and their corresponding BCKA in the blood  To curb infant mortality arising from MSUD (Classic MSUD)  To increase the proportion of active BCKDH  To recycle BCAA and BCKA into non-essential Amino acids

It can help prolong the lives of MSUD patients especially the infants. Phenyl butyrate can help reduce neurological damage due to BCAA and BCKA Equilibrium favouring the active site of enzyme i.e. Revival of BCKDH

A compound isolated from sharks and rays, tri- methyl amine N-oxide (TMAO). TMAO is a natural osmolyte and has been shown to facilitate the correct folding of a variety of disease-related proteins Thiamine Pyrophosphate as Co-factor for Decarboxylation of α-keto acids Use of lactating porcine mammary gland for recycling BCAA

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