1. Maple Syrup Urine
By: Joe Harvey

2. What is Maple Syrup Urine?
Maple syrup urine disease (MSUD) is an aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched- chain amino acids leucine, isoleucine, and valine

3. What is MSUD? (cont.)
Early diagnosis and dietary intervention prevent complications and may allow for normal intellectual development
Consequently, MSUD has been added to many newborn screening programs, and preliminary results indicate that asymptomatic newborns with MSUD have a better outcome compared with infants who are diagnosed after they become symptomatic

6. Who Discovered MSUD? MSUD was discovered by John Menkes in 1954
Menkes reported a family in which 4 infants died within the first 3 months of their lives because of a neurodegenerative disorder
The urine of these infants had an odor resembling maple syrup

7. Symptons
There are several types of maple syrup urine disease. The most common (classic) form typically will produce symptoms in newborn infants aged 4-7 days
Poor feeding
Vomiting
Poor weight gain
Increasing lethargy (difficult to wake up)
Characteristic burned sugar smell to urine
Changes in muscle tone, muscle spasms, and seizures

8. Symptoms (cont.)
Individuals with intermittent MSUD, the second most common form of the disorder, develop normally but when ill show the signs of classic MSUD
Intermediate MSUD is a more rare form. Individuals with this type have 3-30% of the normal level of BCKD enzyme, so symptoms may begin at any age.
The other two types of are thiamine-responsive MSUD and E3-deficient MSUD which are more rare and less severe.

9. Diagnostics Ways to detect MSUD
the odor of the urine has the scent of maple syrup
a blood test for amino acids can be done
Screening of newborns at birth are conducted in several states in the U.S.

10. Treatment Strict structured diet
restricted from dietary forms of the three amino acids leucine, isoleucine, and valine
There are several commercial formulas and foods for individuals with MSUD

11. Work Cited
Boldamer, Olaf A. "Maple Syrup Urine disease." Emedicine. 7 July July <
Kugler, Mary. "Maple Syrup Urine disease." About.com June July < htm>.
"Maple syrup urine disease." Wikipedia. 28 July July <