Who is affected by maple syrup urine disease?

Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns.

What do you need to know about maple syrup urine disease?

Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of an enzyme complex (branched-chain alpha-keto acid dehydrogenase) that is required to break down (metabolize) the three branched-chain amino acids (BCAAs) leucine, isoleucine and valine, in the body.

What happens to leucine levels in maple syrup?

Impaired activity of the branched-chain 2-oxoacid dehydrogenase complex results in the accumulation of branched chain l -amino acids (leucine, isoleucine, and valine) and 2-oxoacids. The increased leucine levels appear to exert most of the neurotoxic effects.

What causes the absence of the maple syrup smell?

It should be emphasized that in the presence of such apparently non-specific neurologic findings the diagnosis of MSUD cannot be excluded by the absence of the maple syrup smell. MSUD is caused by changes (mutations) in three different genes: BCKDHA, BCKDHB and DBT.

What kind of proteins are in maple syrup?

These three genes provide instructions for making proteins that work together as part of a complex. The protein complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food, particularly protein-rich foods such as milk, meat, and eggs.

What is the prevalence of maple syrup urine disease?

Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns.

What are the best treatments for maple syrup urine disease?

Treatment . The main treatment for maple syrup urine disease is the restriction of dietary forms of the three amino acids leucine, isoleucine, and valine.   These dietary restrictions must be lifelong. There are several commercial formulas and foods for individuals with MSUD.

What is the treatment strategy in maple syrup urine disease?

• Protein-Restrictive Diet. A protein-restrictive diet is the first course of treatment most doctors recommend for maple syrup urine disease.
• Thiamine Therapy.
• Intravenous Treatment.
• Liver Transplant.
• Pain Medication.

  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.