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.
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.
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