It’s rather amazing how many diseases science has eliminated in the past 100 years. Even the diseases that persist are usually far less deadly than they once were. Ailments such as influenza and chickenpox were once fatal, but antibiotics have made them far less dangerous. Perhaps all the latest advancements made by science are the reason for the apathy people feel towards the diseased. One issue that few people are even aware of is maple syrup urine disease, a metabolic disorder that disrupts normal amino acid metabolism.
What is Maple Syrup Urine Disease?
This metabolic disorder disrupts the body’s ability to process and digest amino acids, specifically branched-chain amino acids. The result is the buildup of dangerous acids which would otherwise be absent. There are four major types of organic aciduria, and maple syrup urine disease is the most common.
Symptoms of Maple Syrup Urine Disease
The medical name for this condition is branched-chain ketoaciduria. The disease gets its common name from the maple syrup scent of the urine of people with the condition. The scent is caused by the excess acid within the patient’s body. This strong smell is the primary symptom of the disease, but there are others. The maple syrup scent may also be present in the ear wax of the patient. Other symptoms include lethargy, vomiting and dehydration. However, some of the symptoms are far more problematic and they may even be fatal. One such symptom is hypoglycemia, a condition that results from an inadequate amount of glucose within the blood. Sugar is basically the fuel for the brain and a diminished glucose can lead to seizures, permanent brain damage, and even death.
Another serious condition resulting from maple syrup urine disease is hypotonia. The name literally translates to not enough muscle tone. People who suffer from this condition have diminished strength in their muscles, but they usually live fairly regular lives. Unfortunately for patients of maple syrup urine disease, they may experience a much worse condition known as opisthotonus. This serious disorder results in the complete arching of the spine and neck.
Another fatal symptom of maple syrup urine disease is the condition known as Pancreatitis. This is the most serious symptom and it requires immediate attention from medical professionals. The inflammation of the pancreas occurs when trypsin and other pancreatic enzymes are activated in the pancreas rather than in the small intestine. It’s very rare, but people with maple syrup urine disease can fall into a coma or even die from the condition. Fortunately, there are proactive steps people with this disease can take to lead more normal lives.
Maple Syrup Urine Disease Diet
This diet is more about what the patient can’t eat than it is about what they should eat. The main food that needs to be restricted is red meat and other foods high in protein. This includes fish, especially salmon. Nuts and eggs should also be eaten at a minimum. Green vegetables and fruits should be used to substitute the calories that were once provided by the consumption of red meat. However, citrus should also be eaten sparingly; oranges, lemons, limes and grapefruits are all highly acidic.
How do People Get Maple Syrup Urine Disease?
This condition is genetic in origin and is passed on to a child by his or her parents. However, maple syrup urine disease symptoms may not manifest themselves in infants. This is because the disease can be divided into four separate categories; intermittent, intermediate, thiamine and classic. The symptoms may be present from the time of birth or they may manifest later in life. For parents of infants with the disease, it’s necessary to begin treatment as soon as the maple syrup scent is detected in the child’s urine or ear wax. The disease is especially deadly in younger patients and infants may have to be treated with IV’s.
Maple syrup urine disease in adults typically leads to issues with blood sugar and even neural conditions, but it’s far less fatal. Unfortunately, adults with the condition are far more likely to have children with the condition. Similar to the sickle cell disease, the traits can remain dormant in parents. However, these parents are still capable of passing the disease on to their offspring, because they’re usually unaware of the trait. Like all diseases, this condition has varying levels of severity and it may be necessary for some patients to receive more intensive treatment than others.
Treating the Disorder
The most disturbing aspect of maple syrup urine disease is the fact that it prevents the body from completely digesting certain essential proteins. This is why the condition is so difficult to treat, because these proteins can’t simply be excluded from the diet. However, some people must receive essential nutrients through a vein, because it’s too risky for them to consume them orally. This is the treatment for people with extreme cases of the disease, because most people have a diminished to no ability to break down amino acids. For these people, intravenous nourishment is the only way they can prevent the accumulation of dangerous acids. Fluids and even fats must be administered directly into the bloodstream. For infants, the parents may have to feed them special synthetic formula which is free of harmful acids. Unfortunately, there is no way to completely cure this genetic order, but it can be prevented altogether.
Genetic Testing to Prevent Disease
People of African descent have relied upon genetic testing for years to determine if they have the trait for the deadly sickle cell disease. This is an effective tool which can help parents determine if it’s worth the risk to have children that’ll have the disease. The same thing can be done for parents who have concerns about passing maple syrup urine disease to their children. The disease results from mutations within the genes of both parents. The truth is, all people have the potential to pass a number of genetic mutations on to their children, but this only happens when both parents carry the genetic abnormalities. Fortunately, genetic counseling can be used to make all congenital diseases a thing of the past.
By no means are people with the maple syrup urine disease traits obligated to refrain from reproducing. However, knowing that the disease will be passed on to the child allows them to make an educated decision about whether they want to have kids. They’ll also be proactive in the medical treatment of their children instead of being reactive. A child that shows symptoms can begin to receive immediate medical attention which may save the child’s life. There are a number of other conditions which can be detected before they’re passed on to the next generation. Genetic testing can eventually eliminate these abnormalities in the genes by letting parents know what risks their children will face. By preventing these diseases from being passed to the next generation, the human genome itself can be strengthened.
The day when maple syrup urine disease is no longer a threat will be in the distant future. However, advances in the field of genetic mapping gives scientists a mark for which they can strive. There are a number of reasons why these genetic abnormalities exist. For instance, the sickle cell disease is a natural deterrent to the more deadly disease malaria. The sickle cell condition itself is quite deadly, but people that have it can live to sexual maturity, and procreate. It’s unclear why maple syrup disease occurs within humans, but at least parents have the opportunity to see if these diseases will be passed onto their children.