What is the definition of Maple Syrup Urine Disease?

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. 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. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still lead to delayed development and other health problems if not treated.

What are the causes for Maple Syrup Urine Disease?

Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. 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.

Mutations in any of these three genes reduce or eliminate the function of the protein complex, preventing the normal breakdown of leucine, isoleucine, and valine. As a result, these amino acids and their byproducts build up in the body. Because high levels of these substances are toxic to the brain and other organs, their accumulation leads to the serious health problems associated with maple syrup urine disease.

Researchers are studying other genes related to the same protein complex that may also be associated with maple syrup urine disease.

Additional Information from NCBI Gene:

How prevalent is 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.

Is Maple Syrup Urine Disease an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

  • Condition: Holocarboxylase Synthetase Deficiency (late-onset)
  • Journal: Medicine
  • Treatment Used: Biotin
  • Number of Patients: 2
  • Published —
The study researched the outcomes of 2 patients with holocarboxylase synthetase deficiency (late-onset).
  • Condition: Newborns with an inborn metabolic disease
  • Journal: Turkish journal of medical sciences
  • Treatment Used: Continuous venovenous hemodiafiltration
  • Number of Patients: 8
  • Published —
The study researched the effects of continuous venovenous hemodiafiltration (machine that acts as a filter for the blood) for newborns with an inborn metabolic disease.
Clinical Trial
  • Status: Recruiting
  • Intervention Type: Behavioral
  • Participants: 50
  • Start Date: April 1, 2021
Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease (MSUD)
Clinical Trial
  • Status: Recruiting
  • Participants: 24
  • Start Date: July 9, 2020
Systemic Biomarkers of Brain Injury From Hyperammonemia