Maple Syrup Urine Disorder (MSUD) is a very serious, rare health condition. This condition causes the body to be unable to process specific amino acids. These are the building blocks of proteins. When these amino acids are not processed correctly, they can cause the buildup of substances in the blood and urine. This condition causes sweet-smelling urine, which is why the condition was given its name.
This condition is usually detected right after birth because a small sample of blood is taken from babies for testing. However, if babies are not tested, symptoms usually begin showing up within the first days or weeks after birth. The common symptoms of this condition are:
If a baby is not treated right away for this condition, they might develop symptoms like:
This condition is caused by a mutation in specific genes. These genes are BCKDHA, BCKDHB or DBT. These genes are responsible for the instructions that tell the body to make the enzymes that break down the amino acids that are in proteins. The amino acids that cannot be broken down by those with this condition are leucine, isoleucine, and valine.
The risk factors for this condition are genetic. If either of your parents has the gene for the condition, you are at risk of having it too. The risk increases if both parents are carriers of this gene mutation.
Most babies are given a simple blood test right after birth to check for this disease. If a blood test has not been done, most babies that have the condition will begin to show symptoms within the first few weeks of life. These babies will usually require emergency treatment, meaning that the ER will do blood tests and other diagnostic tests to verify a diagnosis of Maple Syrup Urine Disorder (MSUD). Genetic testing can also be done to check to see if a child has the genes for this condition.
This condition is not preventable in most cases. If you are aware that you could be a carrier for the genes that cause Maple Syrup Urine Disorder (MSUD), you can get genetic testing done to verify that you are a carrier before you have kids.
Treatment of this condition involves children eating a special diet that is intended to reduce their exposure to amino acids that they cannot digest. This means that meat, fish, cheese, eggs, and nuts will all be limited in the mother’s diet and, later on, in the child’s diet. Many children need to take supplements to provide them with isoleucine and valine. Regular baby formula cannot be fed to these children in most cases, or it will need to be restricted.
People with this condition need to follow a low-protein diet for the rest of their life. They will also need to learn to recognize signs of a metabolic crisis, which can be life-threatening without emergency care. Some patients with severe symptoms will need a liver transplant.