The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the pharynx||90%|
|Abnormality of the voice||90%|
|Nausea and vomiting||90%|
|Attention deficit hyperactivity disorder||50%|
|Recurrent respiratory infections||50%|
|Recurrent urinary tract infections||50%|
|Reduced bone mineral density||7.5%|
|Autosomal recessive inheritance||-|
|Elevated plasma branched chain amino acids||-|
|Feeding difficulties in infancy||-|
GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Individuals interested in pursuing genetic testing, including carrier testing, are encouraged to work with a genetics professional who can discuss testing options, arrange for testing, and discuss test results and their implications.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I recently began having a maple syrup smell. Is it possible for an adult to develop maple syrup urine disease? How can I get tested? See answer
My brother has maple syrup urine disease. Is carrier testing available for individuals from families at risk? See answer