Maple syrup urine disease (MSUD), also known as:
It is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition can smell like maple syrup.
MSUD results from a difficiency in an enzyme, branched-chain α-keto acid dehydrogenase (BCKDH), that is involved in the catabolism of the branched-chain amino acids (BCAAs) leucine, isoleucine, and valine. A deficiency in BCKDH leads to an accumulation of those three amino acids and their corresponding branched-chain α-keto acids (BCKAs).
These three genes, BCKDHA, BCKDHB, DBT provide instructions for making proteins that work together as a BCKDH protein complex. The protein complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food, particularly protein-rich foods such as milk, meat, and eggs.
Mutations in any of these three genes reduce or eliminate the function of the protein complex, preventing the normal breakdown of leucine, isoleucine, and valine. As a result, these amino acids and their byproducts build up in the body. Because high levels of these substances are toxic to the brain and other organs, their accumulation leads to the serious health problems associated with maple syrup urine disease.
Symptoms of MSUD include:
MSUD can be examined and tested through plasma amino acid test and urine amino acid test. If tested positive, there will be signs of ketosis and excess acid in blood(acidosis).
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Reference :
MedlinePlus, 2013. Maple syrup urine disease [Online]
Available at: <http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm>
Genetics Home Reference, 2013. Maple syrup urine disease [Online]
Available at: <http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease>
The Medical Biochemistry Page, 2014. Maple Syrup Urine Disease [Online]
Available at: <http://themedicalbiochemistrypage.org/msud.php>
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