Maple syrup urine disease

How can I get tested for maple syrup urine disease?

GeneTests lists laboratories offering clinical genetic testing for maple syrup urine disease. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.

Last updated on 05-01-20

How is maple syrup urine disease inherited?

Maple syrup urine disease is inherited in an autosomal recessive pattern. This means that both copies of a gene in each cell have mutations. The parents of an individual who has the condition each carry one copy of the mutated gene.

Last updated on 05-01-20

What is 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. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and developmental delay. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if untreated.

Last updated on 05-01-20

Is carrier testing available for maple syrup urine disease?

Carrier testing is available on a clinical basis in families with a history of maple syrup urine disease once the mutations have been identified in the affected individual.

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

We suggest that you speak with a genetics professional about your family history and desire for genetic testing.

Last updated on 05-01-20

Is it possible for an adult to develop maple syrup urine disease?

At times a peculiar maple syrup smell in the urine or sweat can occur in older, healthy children or adults who are non-symptomatic. The reason for this is unknown. However, these individuals should be checked for a milder form of maple syrup urine disease, especially if there are other symptoms suggestive of maple syrup urine disease.

Last updated on 05-01-20

Are there different types of maple syrup urine disease?

There are four general types of maple syrup urine disease. The different types are classified based on the amount and type of enzyme activity present in the affected individual.

  • Classic maple syrup urine disease is the most common type. Individuals with classic maple syrup urine disease have little or no enzyme activity (usually less than 2 % of normal). Infants with this type of maple syrup urine disease will show symptoms within the first several days of life. It is managed through diet with severe protein restriction.
  • Intermediate maple syrup urine disease is a variant of the classic type. Individuals with intermediate maple syrup urine disease have a higher level of enzyme activity (approximately 3 to 8% of normal) and can tolerate a greater amount of leucine. However, in periods of illness or fasting, these individuals may react like a child with the classic type of maple syrup urine disease. Management is similar to that used for the classic type.
  • Intermittent maple syrup urine disease is a milder form of the disease. Individuals with this type have a greater level of enzyme activity (approximately 8 to 15% of normal) and often do not have symptoms until 12 to 24 months of age, usually as a result of an illness or surge in protein intake. During an illness, an individual with intermittent maple syrup urine disease may exhibit a strong maple syrup odor and/or go into a metabolic crisis.
  • Thiamine-responsive maple syrup urine disease is so named because large doses of thiamine given to these individuals will result in an increase in the enzyme activity which breaks down leucine, isoleucine and valine. Only moderate protein restriction is needed to manage this type of maple syrup urine disease.

Last updated on 05-01-20

Newborn Screening

Maple syrup urine disease

The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.

Last updated on 04-27-20

Name: Maple Syrup Urine Disease Family Support Group Powell, OH, Phone: +1-740-972-5619 Email: Url:
Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: Url:
Name: Save Babies Through Screening Foundation, Inc P.O. Box 2313
Palm Harbor, FL, 34682-2313, United States
Toll Free: 888-454-3383 Email: Url:
Name: Genetic Metabolic Dietitians International P.O. Box 1462
Hillsborough, NC, 27278, United States
Email: Url:
Name: American Dietetic Association 120 South Riverside Plaza, Suite 2000
Chicago, IL, 60606-6995, United States
Toll Free: 800-366-1655 Email: Url:

Connect with other users with Maple syrup urine disease on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App