However, genetic testing and counseling help families understand the risk of having a child with MSUD and make informed decisions about family planning. MSUD is a genetic disorder, therefore, there is no way to prevent it from occurring in families with a history of the disorder. The medial team needs to know about any changes in the patient’s symptoms or state of health immediately.
The body’s BCAA levels are regularly checked with blood tests. Another medication, called thiamine, can also improve the metabolism of BCAAs.Ī healthcare team must closely monitor MSUD patients to make sure their diet and medications prevent metabolic crises.
One example is sodium phenyl-butyrate, which helps break down the excess of BCAAs. Medications may help control the levels of BCAAs in the body.
#Maple syrup urine disease medicine how to
As your child gets older, they’ll eventually need to learn how to control their diet and will stay in contact with a dietitian for advice and monitoring.” “People with MSUD need to follow a low-protein diet for the rest of their life to reduce the risk of a metabolic crisis. They may also need to take supplements containing critical amino acids that are missing from their diet.Īccording to the UK’s National Health Service (NHS): A certified dietitian or metabolic specialist must carefully create a low-protein diet for the patient – they need to consume the right nutrients, but without BCAAs.Ī low-protein diet may not be enough for MSUD sufferers.
The aim of treatment is to stop the body’s production of branched-chain amino acids (BCAAs), which can lead to neurological symptoms and other problems.īCAAs, which are present in meals high in protein, including meat, dairy products, and legumes, are one of the mainstays of MSUD treatment, and must be strictly avoided. The treatment for MSUD involves a combination of dietary restrictions, medications, and close monitoring by a healthcare team. Interesting reading: What’s the difference between a sign and a symptom? This can result in seizures, coma, and other life-threatening complications. MSUD symptoms typically worsen with mental or emotional stress, and may reach a point in which the patient has a metabolic crisis. Additionally, patients may be more prone to behavioral issues like anxiety, depression, poor coordination, and problems with balance. In teenagers and adults, MSUD symptoms may be more subtle and may include poor growth, delayed development, and intellectual disability. If left untreated, MUSD can lead to seizures, coma, and even death. Other signs and symptoms include poor feeding, vomiting, and lethargy. This happens because of an accumulation of branched-chain acids in the body, which then are broken down into chemical compounds that can produce this unusual odor. It is similar to the smell of maple syrup or burnt sugar. The main sign of MUSD is the sweet odor of the child’s urine. In some cases, diagnosis is made much later in childhood. Typically, symptoms start to show up within the first few days of life, or soon after birth. The signs and symptoms of maple syrup urine disease (MSUD) can vary depending on the severity of the disorder and the age of onset. There is a 25% probability that a child may inherit the condition if both parents have the gene. Parents who carry the gene can pass on this mutation to their offspring. A genetic mutation that alters the function of the BCAA-degrading enzymes is the root cause of MSUD. These amino acids are important building blocks for the body. MUSD is caused by a deficiency of one of the enzymes responsible for breaking down three branched-chain amino acids (BCAAs), namely leucine, isoleucine, and valine. In fact, it smells very much like maple syrup. This condition gets its name from the sweet smell of urine in infants with MSUD. The disorder affects the body’s ability to break down certain amino acids found in protein. Maple syrup urine disease (MSUD) is a rare but serious genetic metabolic disorder. Written by Nicolas Perez Diaz, May 4th, 2023.
0 kommentar(er)
