ABC Medical Center > Diseases > Maple Syrup Urine Disease

What is maple syrup urine disease?

11 December 2025

It is a low-incidence genetic condition caused by an enzyme anomaly that prevents the breakdown of certain amino acids, causing them to build up in the blood and damage the brain and other organs.

Maple syrup urine disease is passed down from parents to children and its onset is due to a defect in the genes that produce the enzymes responsible for breaking down three amino acids (leucine, isoleucine, and valine) present in some foods, which causes these chemicals to accumulate in the bloodstream.

This inherited pathology is specifically characterized because the urine of the affected person smells like maple syrup. Physical stress caused by an infection, fever, or prolonged fasting can trigger a buildup of high levels of leucine and subsequently cause brain damage.

Symptoms: Maple Syrup Urine Disease

Symptoms can be moderate or severe, depending on the specific genetic anomaly of the case, but the most frequent signs are:

  • Seizure episodes.
  • Feeding problems.
  • Chronic tiredness.
  • Lack of energy.
  • Irritability.
  • High-pitched crying.
  • Urine with a maple syrup-like odor.
  • Delays in development and weight gain.
  • Muscle tension.
  • Vomiting.

Maple syrup urine disease requires immediate treatment, as failure to do so can lead to high levels of certain amino acids that may be fatal.

The risks and complications of this genetic condition include:

  • Coma.
  • Neurological damage.
  • Intellectual disability.

Diagnosis and Treatment: Maple Syrup Urine Disease

After analyzing your child’s symptoms and clinical history, the doctor will perform a physical examination and request the following tests to help confirm the diagnosis, such as:

  • Genetic analysis, especially if there is a family history.
  • Organic acids studies in urine.
  • Plasma amino acid test.

Once the diagnosis of maple syrup urine disease is confirmed, the treatment involves a low-protein diet with low concentrations of the three problematic amino acids to prevent damage to the nervous system.

Infants must be fed a special formula as soon as possible. Nutritional supplements may also be required, and in the most severe cases, a liver transplant.

With a strict lifelong diet and regular medical check-ups, children with this condition can develop into adulthood and remain healthy.

At the Pediatric Center, we provide specialized care to young patients from birth through adulthood, offering pediatric care, oncology, neurology, and cardiology services on par with the best medical centers in the world.

Related centers and departments Maple Syrup Urine Disease

Pediatrics Center
Internal Medicine
High Specialty Surgery Center
Radiology and Molecular Imaging
Clinical Laboratory
Cancer Center

Fuentes:

  • analesdepediatria.org
  • stanfordchildrens.org
  • kidshealth.org
  • bvsalud.org
  • topdoctors.es
  • revistapediatria.org
  • medlineplus.gov
  • medigraphic.com
  • Enfermedad de la orina con olor a jarabe de arce. Caso único en Cuba. Revista Médica Electrón. 2014;36(5):656-664.
  • Ibarra-González I, Fernández-Lainez C, Belmont-Martínez L, et al. Elevada mortalidad y discapacidad en niños mexicanos con enfermedad de orina con olor a jarabe de arce (EOJA). Gaceta Médica México. 2007;143(3):197-201.

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