Maple Syrup Urine Disease (MSUD) ...Unique Among the Amish

Maple Syrup Urine Disease (MSUD) is a metabolic disorder passed down through families, and affects newborn babies. A baby with MSUD cannot metabolize certain proteins called BCAAs. The urine and earwax in individuals with this disorder smells like maple syrup. MSUD is rare among the US population but common among the Amish.

MSUD is caused by a genetic defect. Newborns with this disorder cannot break down certain branched chain amino acids (BCAAs): leucine, isoleucine, and valine. This leads to the build up of these chemicals in the blood which are toxic to the baby.

Children with this condition have fragile health. They react strongly to common childhood illnesses like colds and ear infections. They run high fevers resulting in seizures, brain damage, spasticity, retardation, coma and death.

Unless strict dietary treatment which consists of eliminating protein from the diet is started immediately after birth, an infant with MUSD can die.

Maple Syrup Urine Disease is relatively rare in most of the United States, but it is very common among the Amish people. Amish cemeteries contain the graves of many young children who presumably died of MSUD.

The Amish are a conservative Christian group who live in Ohio and southeast Pennsylvania. They are most famous for their rejection of modern conveniences. They use a horse and buggy instead of a car, and most do not have electricity.

Their lifestyle is based on strict interpretation of the Bible. Almost all of the current Amish people in the US are descendants of the same few hundred religious founders who came to the United States in the 18^th century.

Since the Amish do not reproduce with outsiders, their gene pool is limited. Almost all the Amish in Lancaster County Pennsylvania originated from the same small group of 18^th century immigrant farmers.

Converts to the Amish faith are rare, so Amish marry other Amish. This practice leads to endogamy or founders' effect. With few new blood lines and no variation of new genes, all the Amish are related. Certain recessive genes are passed on when Amish couples procreate, resulting in genetic disorders. Maple Syrup Urine Disease is one of them.

Rather than seeking new converts, the Amish increase their numbers by having large families. Almost every family has had sick children.

Children marry young and leave school after 8^th grade. As a result there are no Amish doctors. However there now are clinics in the Amish communities which specialize in treating and studying genetic problems unique to the Amish.

The Amish use of doctors and medical care varies. Some attribute illness as "God's will" and do nothing, while others do seek modern medical help. Others use chiropractors and natural healing methods. They help each other financially as most have no health insurance.

Maple Syrup Urine Disease is present at birth. It is an inherited disorder caused by recessive genes passed on by both parents even if the parents are symptom free of the disease.

The disease is characterized by poor feeding ability, excessive crying and vomiting, and the tell tale odor of maple syrup in the infant's urine. Infants with the disease are lethargic, developmentally delayed, brain damaged and can die if a special diet is not followed. Symptoms usually develop within 5 days of birth.

The MSUD diet is the only treatment for the disease, and it must be followed exactly. A dietician or physician will monitor the child throughout its life. The diet consists of eliminating protein rich foods such as meat, dairy products (even breast milk) and eggs (BCAAs,) and providing alternative substitutes, obtainable by doctors' prescription.

Sometimes a liver transplant is needed. Nourishment may be given intravenously for a period; but the disease has no cure. However, with careful dietary treatment, a MSUD child can live a fairly normal life.

The only cure is marrying and reproducing with someone who is not Amish, or seeking genetic counseling before conceiving a child.

Several states now routinely test newborns for MSUD.

Sources:

http://www.wisegeek.com/what-is-maple-syrup-urine-disease.html

http://www.medfriendly.com/amish.php5http://ghr.gov/condition/maple-syrup-urine-disease