E71.0: Maple-syrup-urine disease

You have a disorder which means that certain amino acids are not being broken down properly.

Amino acids perform many different functions in the body. The body needs amino acids to, for example, produce proteins. Some amino acids have to be consumed via food. Other amino acids can be produced in the body. If certain amino acids are not being broken down properly, they can accumulate in the body. This can cause damage to the brain, for example.

The disorder can take a more or less severe course. If the disorder becomes severe, the first indications appear during the early days after the birth. There can be vomiting, excessive sleepiness and physical weakness. Breathing can also be changed. Seizures can also occur.

The disorder may also only become noticeable during childhood. Vomiting, sleepiness and physical weakness can then occur increasingly when the body is subject to stress, for example. Examples of such stress are fever and operations. The symptoms can also be present if too much protein is consumed. Children who are affected may suffer delayed development. The disorder is typically accompanied by a smell of maple syrup.

The disease is hereditary. It occurs when certain segments of genetic information are changed. The genetic information holds a complete blueprint of the body's structure. The disorder can occur if both parents carry the changed genetic information. The parents can pass the changed genetic information on to their children without falling ill themselves.