This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|Percent of people who have these symptoms is not available through HPO|
Low blood neutrophil count
Low neutrophil count[ more ]
Increased spleen size
Fast heart rate
Racing heart[ more ]
High urine trimethylamine levels
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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
After questioning our doctor as to why our son occasionally had a fishy smell, our son was diagnosed as a carrier of trimethylaminuria. Through genetic testing, it was identified that he has a heterozygous mutation. This obviously means that at least either myself or my husband is a carrier also. What are the carrier incidence rates? I am currently pregnant and am wondering what the chances are that future children could have the full syndrome. In other words, what are the chances that the both my husband and I are carriers? See answer
My daughter is 9 months old and has Down syndrome. She also has a strong, fish-like odor coming from the mouth. Is it possible that she could also have trimethylaminuria? How might a person be tested for this condition? See answer
Although I have not been diagnosed with trimethylaminuria, I have been having a foul odor for about 2 years. Can you tell me more about this condition? How can I be tested for this condition? How is it treated? Is there a cure for trimethylaminuria? See answer