What is the treatment of maple syrup urine disease?
What is the treatment of maple syrup urine disease?
The main treatment for MSUD is a low-protein diet with low levels of the three amino acids. Babies with MSUD must be on a special formula as soon as possible. Then, they’ll follow the special diet for the rest of their lives. Some also need to take nutritional supplements.
How long can you live with maple syrup urine disease?
If untreated, life-threatening coma or respiratory failure could occur within 7 to 10 days and most will die within several months. Upon any lapse of treatment, classic MSUD can cause brain damage.
Why is thiamine used for the treatment of maple syrup urine disease?
Thiamine plays a role in the BCAA enzyme complex. The symptoms and clinical course of thiamine-responsive MSUD resembles intermediate MSUD and rarely presents in the newborn period. Affected infants respond to large doses of thiamine, which boosts residual enzyme activity.
Is Gene Therapy an Option for maple syrup urine disease?
Therefore, administration of a gene therapy vector that expresses in both muscle and liver may represent a viable approach to treating patients with MSUD.
What body systems are affected by maple syrup urine disease?
Maple syrup urine disease (MSUD) is a genetic disorder that leads to progressive nervous system degeneration and for some, brain damage.
Why do I randomly smell maple syrup?
Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The urine of people with this condition can smell like maple syrup.
Can maple syrup urine disease go undetected?
While newborn screening programs allow for early detection of classic MSUD, cases of the intermittent form might go undetected, and present later in childhood following metabolic derailment, with an array of non-specific symptoms.
How is MSUD diagnosed?
Maple syrup urine disease (MSUD) is often diagnosed based on the results of a newborn screening test. The diagnosis is then confirmed by urine and blood testing. In some cases, especially in adolescents and adults, MSUD is diagnosed based on the symptoms, clinical exam, and the results of urine and blood testing.
Does maple syrup urine disease have a cure?
Their metabolism corrected itself and began to break down the amino acids as it was meant to. A transplant is successful when it cures the disease and allows the child to eat an unrestricted diet. This is the only known cure for maple syrup urine disease.
What is the prognosis for maple syrup urine disease?
If untreated, maple syrup urine disease can lead to seizures, coma, and death. Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth.
How is harmfal maple syrup urine?
Maple syrup urine disease (MSUD) occurs when the body is unable to breakdown certain parts of proteins. This leads to the build-up of toxic substances that can cause organ and brain damage.
What are the symptoms of maple syrup disease?
Seizures
