Download Maple Syrup Urine Disease (MSUD)

What is (MSUD)???
 MSUD is a potentially deadly disorder
that affects the way the body breaks
down three amino acids: Leucine,
Isoleucine, and Valine.
 Individuals who have the disease
produce urine that has a distinctive
maple syrup odor.
 This disease affects many parts of the
body, it affects the urine and during
time of stress MSUD can damage the
brain
Symptoms of Maple Syrup Urine
 Vomiting
Disorder:
 lack of energy (lethargy)
 developmental delay
 Avoiding food
 Urine that smells like maple syrup
 If untreated, Maple Syrup Urine Disease can lead to
seizures, coma, and death.
WHY?
 (MSUD) is a result of mutations in
the BCKDHA, BCKDHB, and DBT
 Mutations in any of these three genes prevent 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, a lot of it leads to serious
health problems.
How can you get it?
 Defects in any of the six subunits of the BCKD
protein complex can cause MSUD. The most
common defect is caused by a mutation in a gene on
chromosome 19.
 For a child to get the disease, he/she must inherit a
defective copy of the gene from each parent.
How is the disorder
treated?
 Treatment involved dietary restriction of the amino acids Leucine,
Isoleucine, and Valine.
 This treatment must begin very early to prevent brain damage.
 As the person grows to adulthood, he or she must always watch their diet,
avoiding high-protein foods such as meat, eggs, and nuts.
 If levels of the three amino acids still get too high, patients can be treated
with an intravenous (given through a vein) solution that helps the body
use up excess Leucine, Isoleucine, and Valine for protein synthesis.
 Gene therapy is also a potential future treatment for patients with MSUD
 This treatment would involve replacing the mutated gene with a good
copy.
How is the disorder
diagnosed?
 Genetic counseling is suggested for people who
want to have children and who have a family history
of maple syrup urine disease. Many states now
screen all newborns with blood tests for MSUD.
 If a screening test shows that your baby may have
MSUD, a follow-up blood test for amino acid levels
should be done right away to confirm the disease.
How common is it?
 MSUD is an extremely rare disorder; only 1 in 180,000
babies is born with MSUD.
 But in certain populations, the disease is much more
common. In Pennsylvania, as many as 1 out of every
176 babies is born with the disorder.
Citations:

Bodamer, Olaf A. "Maple Syrup Urine Disease Treatment &
Management." Medscape. Ed. Luis O. Rohena. WebMD, 4 Nov. 2014.
Web. 6 June 2015. <http://emedicine.medscape.com/article/ 946234treatment>.

Haldeman-Englert, Chad. "Maple Syrup Urine Disease." MedlinePlus.
N.p., 12 May 2015. Web. 6 June 2015.
<http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm>.
 "Maple Syrup Urine Disease (MSUD)." Learn.Genetics. U of Utah, n.d.
6 June 2015.
<http:learn.genetics.utah.edu/content/disorders/singlegene/msud/>.
 Giorgi, Anna. "Maple Syrup Urine Disease (MSUD)." Healthline.
Healthline Networks, n.d. Web.6 June 2015.
<http://www.healthline.com/health/maple-syrup-urine-disease#LongTermOutlook9>.
Thank You!!
By Hussein El Akkad
Bio 9