Maple syrup urine disease (MSUD) is
a genetic metabolism disorder in which the body is unable to break down certain protein building blocks (amino acids)
properly. Its name is derived from the distinctive ‘maple syrup-like’,
sweet smell of the affected person’s urine.
MSUD is caused by
a gene defect which results in a defective enzyme, the branched-chain α-ketoacid dehydrogenase
(BCKD). Since BCKD is involved in the breakdown of the branched-chain
aminoacids (BCAAs), leucine, isoleucine and valine, a deficiency in it will
cause the amino acids and their byproducts to accumulate in the body. High
levels of these chemicals in the body are harmful to thebrain and other organs,
leading to other severe medical problems associated with MSUD.
The MSUD is characterized
by symptoms like avoiding food, coma, feeding difficulties, lethargy, seizures, vomiting
and the aforementioned, urine that smells like maple syrup. MSUD have varying degrees of
severity, some milder, some more serious. In the most severe form, MSUD can
cause brain damage when
subjected to physical stress, like infection, fever or not consuming for a long period of time.
However, even in the mildest form, repeated periods of physical stress can also
cause mental retardation and high concentrations of leucine.
Methods of
detection include the Plasma Amino Acid test and Urine Amino Acid test. A
positive test will show signs of ketosis and excess acid in the blood
(acidosis).
References:
Genetics Home
Reference, 2008. Maple syrup urine disease. [online] Available at: <http://
ghr.nlm.nih.gov/condition/maple-syrup-urine-disease>
Medline Plus,
2011. Maple syrup urine disease. [online] Available at:
<http://www.nlm.nih.gov/
medlineplus/ency/article/000373.htm>
Pubmed Health,
2011. Maple syrup urine disease. [online] Available at
<http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001411/>
The Medical
Biochemistry Page, 2012. Introduction to Maple Syrup Urine Disease: MSUD.
[online] Available at: < http://themedicalbiochemistrypage.org/msud.php/>
How does the plasma amino acid test and urine amino acid test works?
ReplyDeleteIs this disease very common in people? is there some kind of trend in certain countries that most of the population would have a higher chance of getting the disease? :)
ReplyDeleteVery organized and detailed blog! :) Interesting disease as well!
ReplyDeleteYou mentioned that MSUD is caused by a gene defect, which gene would it be? And also, in what way is MSUD passed on to the next generation? Are there any specific age groups that this disease affects?
Great job btw! ^^
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