Maple syrup urine disease is such a genetic disease that if a person suffers from it, his body would not be able to process certain protein building blocks, breaking down the parts of amino acids, leucine, isoleucine, and valine properly. This is an inherited disorder that can already be seen since one was born. The condition makes the person suffer of vomiting, poor feeding, developmental delay, and lack of energy or lethargy that makes a person have no ability to wake up.
The gene defect passed through the family, if exacerbated, can make the sufferer to get the brain damaged during times because of physical stress such as fever, infection, or not eating for a long time. A person who suffers from maple syrup urine disease will also get the change in his muscle tone, spasms, and seizures. The name of the disease itself is taken from the smell of the urine from the person that suffers it that smells like a maple syrup.
The disease was firstly found in the year of 1954 when reported that there were four infants in a family dead within three months of their lives for the neurodegenerative disorder. The infants’ urine smelled like maple syrup. In the early diagnosis, the patient of this disorder can be examined from the urine itself that will undergo such an odor change. This is the easiest symptom that can be revealed to see whether someone suffers from this disease.
This disease is not very easy to recover, but the sufferer can live healthily with several conditions to obey. They have to get the dietary forms which are specialized for the sufferers of maple syrup disease, such as dietary food that does not contain any amino acids leucine, isoleucine, and valine. This restriction can be for life long, but it is not that bad, at least because there are those commercial dietary food today that offers various choices for the patients of maple syrup disorder.
The condition of the patient can be exacerbated if he has to undergo a surgery injured, or being sick. This is because the disorder can give complication to the injury, viceversa. It makes the patient has to stay some time longer in the hospital for a specialized medical cure for the prevention of more severe complication in his body. Any of the patients of the disorder, in any condition, are suggested to do a regular check up.