MAPLE SYRUP
URINE
DISEASE
What is it?
• Maple Syrup Urine Disease (MSUD)
is an autosomal recessive disease
caused by a gene mutation where
the body is unable to break down
amino acids. This condition is very
rare and you have a 25% chance of
getting the disease and is not more
common in men or women. This
disease is most common among
Jewish people.
Symptoms
• Some symptoms of the disease is
abnormal or spastic movements,
hypertonia, or the odor of maple syrup
from urine, sweat, or earwax.
Tests and treatments
• The best way to diagnose MSUD is to
get a plasma amino acid
quantitative analysis. The easiest
way to treat this disease is a life
long protein-restricted diet, and to
monitor the amino acid levels in the
blood. Also, Liver Transplants have
cured people with MSUD. Scientists
at the University of London are
currently working on a cure for
MSUD called Gene Therapy.
Life risks
• MSUD can be fatal if it is not monitored correctly. As long as you monitor
the disease and have a lifelong protein-restricted diet, you should be able
to live a normal life.
Interesting facts
• People with MSUD cant break down amino acids because they lack the
enzyme that gives them the ability to do so.
• If not monitored correctly, this disease can lead to intellectual disabilities
Works cited
• [Link]
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• [Link]
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life
.
• [Link]
