Maple Syrup Urine Disease Is Genetic, So It Cannot Be Prevented

Maple syrup urine disease (MSUD) is a genetic (hereditary) disease and is very serious. This very rare disease makes the body unable to process amino acids, causing a buildup of harmful substances in the urine and blood. Under normal conditions, the human body can process protein from fish and meat to amino acids and remove substances that are not needed by the body. Amino acids themselves are substances that are produced after the body digests proteins from the food consumed. In people with maple syrup urine disease, leucine, isoleucine, and valine amino acids cannot be treated normally. Even though high levels of amino acids can be harmful to the body. The inability of the body to digest amino acids in this disease is caused by genetic disorders that make the production of protein digestive enzymes inhibited.

Gene Mutation Causes Disease

A child with maple syrup urine disease inherits two copies of the gene mutation each from his father and mother. If you only have one gene, then the child will only be a carrier of MSUD. If the prospective father carries the MSUD gene and the expectant mother carries the MSUD gene as well, then their child is 25% more likely to suffer from MSUD, and 50% are carriers of the MSUD gene. This is where the importance of informing if there is a family member who has a history of the disease. Although there is no way to prevent the birth of a baby with MSUD, your doctor can examine whether the condition of your genes and your partner is at risk of having a baby with maple syrup urine disease or other inherited disorders through genetic testing. After the baby is born, maple syrup urine disease can be recognized from the symptoms that appear in the early days or weeks after birth. Therefore, be aware if your child experiences the following conditions:

• Sweet-scented urine and sweat
• Weight does not increase
• Do not want to suckle
• Throw up
• Muscle stiffness or weakness
• Convulsions
• Fussy
• Often looks weak
• Hard to breathe
• Abnormal sleep patterns

The faster the baby's condition is checked by a doctor, the faster and more accurate handling will be given. Appropriate treatment can also prevent a sick baby from complications of MSUD, such as coma, brain damage, blindness, metabolic acidosis, mental disorders, growth and development obstacles, until death. To confirm the diagnosis, the doctor will conduct a physical examination plus a series of investigations with blood, urine and genetic tests.

Accompanying Children with Maple Syrup Urine Disease

For children diagnosed with MSUD, a periodic evaluation of the condition is needed to see a pediatrician. The doctor will ensure proper growth and development, and monitor the nutritional status of your child. Care to deal with urine maple syrup itself must be carried out continuously throughout life, such as blood tests to continue to monitor the body's amino acid levels. Here are some guidelines in assisting children with maple syrup urine disease.

• Diet and nutrition management

Children with MSUD need to be accompanied by a clinical nutrition specialist to undergo a low-protein diet to reduce levels of amino acids, especially isoleucine, valine, and leucine.
-In general, people with maple syrup need to limit their consumption of high-protein foods, such as chicken eggs, fish, meat, cheese, nuts, although these materials are needed for their development.
-Some children may need to take valine and isoleucin supplements.
-Breastfeeding and baby milk needs to be monitored because generally formula contains amino acids. Babies with maple syrup urine disease are usually given special formula milk that is low in protein but contains minerals, vitamins, and other amino acids that your child needs.


• Manage emergency conditions

Babies with maple syrup should be taken to the hospital immediately if they experience symptoms of a metabolic crisis, such as a body that looks weak, shortness of breath, seizures, to decreased consciousness. These symptoms can also appear when the baby's age has entered childhood Your doctor may suggest replacing foods and milk that generally contain protein with amino acid supplements and drinks with high sugar levels. On the other hand, infants with MSUD who continue to have diarrhea need to be immediately referred to the emergency department and then infused to avoid dehydration. Parents should bring a note or leaflet about handling this condition when going to the emergency department, because it is possible that the doctor handling the Little has never treated MSUD patients before.

• Liver transplant

Patients with maple syrup urine disease who undergo liver transplants can lead a normal life without metabolic disorders. However, the liver transplant procedure also has its own risks so that patients who undergo it need to take drugs to suppress the immune system for life.

Caring for and assisting children with MSUD disorders or other metabolic disorders does require patience. Without treatment, MSUD patients will experience life-threatening symptoms, such as brain damage, developmental delay, seizures, or even coma and death. However, with proper and periodic assistance, children with maple syrup urine disease can live actively and normally.