How does it affect patients with the disease?
Accumulation of leucine causes people to experience neurological symptoms
Accumulation of plasma isoleucine causes the presence of the maple syrup odor in the urine.
Symptoms
First few symptoms when the patients is fed protein shortly after birth
- Poor appetite
- weak suck
- weight loss
- high pitched cry
- urine that smells like maple syrup
MSUD causes patients to get sick easily. This is called metabolic crisis.
First few symptoms include
- extreme sleepiness
- sluggishness
- irritable mood
- vomiting
If left untreated, other symptoms will appear
- Muscle tones alternates between rigid and floppy
- brain swelling
- seizures
- metabolic acidosis (high levels of acid in the blood)
- coma
- death
How does metabolic crisis happen?
- When the patient goes too long without food
- When the patient experience an illness or infection
- When the patient undergoes stressful events like surgery
Multiple metabolic crises may lead to permanent brain damage.
References
Weiss, T. C. (2010, October 4). Maple Syrup Urine Disease (MSUD) - Facts and Information. Disabled World. Retrieved June 18, 2012, from http://www.disabled-world.com/disability/types/msud.php
Iobbi, L. P. (2012, June 8). Maple syrup urine disease (MSUD) . flipper e nuvola. Retrieved June 18, 2012, from http://flipper.diff.org/app/items/info/4499
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