Sometimes we know something is wrong with us but for some reason a doctor can not figure out what exactly is going on in our body. A doctor will often look for a common cause to a problem rather than think outside the box which can hinder a diagnosis. When you think about medical diseases it is important to know that some medical conditions are very rare. Very rare medical conditions can pose a serious health risk because it might take time for an accurate diagnosis and plan for treatment. One of these rare medical conditions is maple syrup urine disease and it is something you need to be aware of.
Maple syrup urine disease is a rare metabolic disease that is passed down through family genetics which means you are born with the disease. This disease will show up in a newborn baby and usually will never completely go away. Maple syrup urine disease is essentially where your body can not break down specific types of proteins causing the urine to smell like maple syrup. The branched-chain amino acids leucine, isoleucine and valine are all proteins the body is unable to break down. These proteins are then unable to be transported through the body and end up building up in the bloodstream. Although this might seem like an amusing name for a disease, the forms of it are no laughing matter.
If you have a severe form of maple syrup urine disease then you might suffer permanent brain damage. The brain damage would usually occur if you are stressed physically or your body is stressed like during times of fever or infection. An intermediate or minor case of maple syrup urine disease can still lead to brain damage or other long-term effects. If the body undergoes periods of stress for a long time it can cause slight mental retardation even in the slightest forms of the disease. A child can become mentally retarded and have some developmental delays with this disease and they can occur at any level of the disease.
There are some symptoms that come with maple syrup urine disease although most of them are very general. The main symptom or indication you want to look for is the urine of your baby smelling like maple syrup. The urine having a maple syrup smell should be the key indication that a child is suffering from this disease. Other symptoms you might want to look for include being lethargic and have difficulty eating or showing no interest in food. The lack of interest in food can lead to weight loss or unchanged weight in a baby. Vomiting or seizures could also occur which can lead to your child becoming comatose. A lot of these symptoms are so general that they could be indicative of other serious medial conditions or of very minor medical problems. It is always important to see a doctor if you have a baby with the symptoms so they can run the appropriate testing to determine a diagnosis.
There are only a couple of tests that need to be performed to confirm a diagnosis of maple syrup urine disease. You will have to have a urine amino acid test done which will test what amino acids are in the urine and in what quantity they appear. Plasma amino acid testing might also be done and this is a simple procedure similar to a standard blood test. The plasma amino acids test is done using the plasma within your blood and then the amino acids are tested to see what is present in the blood. In your blood you would have excess acid levels which are an indicator of maple syrup urine disease. The good thing about getting these tests done is that you can move on to treatment once a diagnosis is confirmed.
Treatment usually involves changing your diet to a protein-free diet to eliminate the proteins building up in the blood. Dialysis might be used to reduce the levels of amino acids in the blood during initial diagnosis or when the condition worsens. When the amino acid levels are in a normal range then a special diet is put into place for short-term treatment. The diet consists of avoiding branched-chain amino acids which are the amino acids that can not be processed if you have maple syrup urine disease. The diet might need to be adjusted by a doctor or nutritionist who will be following results closely. A long-term treatment will require a different type of special diet which consists of infant formula. A child who has maple syrup urine disease will be permanently placed on man-made infant formula that has low amounts of leucine, isoleucine and valine. This diet must be followed at all times to prevent damage to the nervous system. Frequent blood testing and supervision by a doctor or nutritionist is also required for long-term care.
If you leave maple syrup urine disease untreated then it can be life-threatening and lead to coma or death . Treatment might also not be able to save a person who has this disease especially when an episode occurs during stress. Coma and death are some of the more serious complications and risks to maple syrup urine disease but mental retardation and slow physical development could also occur. Although there can be long-lasting effects of maple syrup urine disease, a child can grow up healthy and happy if a strict diet is followed. You want to make sure to contact a health professional if you think that maple syrup urine disease is part of your family history to ensure both you and your child are safe. A newborn baby should also be taken to the hospital immediately if you suspect that the child is suffering from any of the symptoms of maple syrup urine disease.
Olaf A Bodamer, “Maple syrup urine disease”, eMedicine from WebMD