Filipino maple syrup urine disease
Maple syrup urine disease (MSUD). As the name implies, the urine has the characteristic smell of maple syrup. Unfortunately, that’s about the good thing about this disorder.
Maple Syrup Urine Disease is a disorder in the body’s ability to use three of the essential amino acids in protein.
The disorder presents itself upon birth diagnosis can be made immediately to find out if a newborn has the disease. In infants with intermediate (a type of) MSUD, symptoms are milder and may not be apparent as soon. Symptoms include fussiness, lethargy, decreased nursing/feeding, poor weight gain, hypotonia (poor muscle tone) or hypertonia (excessive muscle tension), vomiting, a high-pitched cry, seizures and the characteristic maple syrup smell of the urine—more noticeable in a diaper after it is dried. Again, this is a genetic disease and is inherited as a recessive trait which means that the person with the disease has two copies of the same mutation in the gene for MSUD, passed from each parent. A person with only one copy is called a “carrier” and does not have the disease, but MAY still pass that mutation on to his/her children.
As a rare genetic disorder, The prevalence MSUD in the United States is approximately 1 in 200000. It’s unknown how many are affted by this disease in the Philippines, or how many are carriers of the gene, until now when Dr. Catherine Silao and her group performed this first-ever study on Filipino maple syrup urine disease.
According to their findings in Molecular Genetics and Metabolism, one in 100 Filipinos tested for a particular mutation are carriers of the disease, and that’s quite a high frequency. They also discovered a novel founder mutation (here defined) in the enzyme responsible for breaking down the protein that causes the disease. According to the Silao and group:
“Discovery of this novel founder mutation will potentially facilitate prenatal diagnosis of affected families.”
For more information on MSUD, visit http://www.msud-support.org/.
Related Stories
POSTED IN: Health and Welfare
July 2nd, 2006 at 2:13 am
[…] Research on human diseases is very much alive in the Philippines and Grace of Filipina Soul, who also writes b5media’s Flu Patrol blog, contributes two very readable pieces on Filipinos in genetics research: familial hypercholesterolemia and maple syrup urine disease. […]
July 18th, 2006 at 10:42 am
[…] Filipino Soul wrote two posts about genetics research by Filipinos on maple syrup urine disease and familial hypercholesterolemia as a blog carnival for fellow B5′er Genetics and Health under the ”protein” section (practical genetics applications). Research on human diseases is very much alive in the Philippines. […]