A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding trimethylaminuria can be frustrating. This condition affects a small number of individuals worldwide, which restricts the ability to conduct extensive clinical studies. Additionally, the genetic basis was only recently identified, leading to ongoing efforts in clinical characterization. As a result, many aspects of the condition, including its clinical features, remain inadequately documented.
To navigate trimethylaminuria, consider consulting a metabolic specialist with experience in inborn errors of metabolism. This specialist can provide tailored management strategies. Additionally, the MEBO Research organization offers resources and support for individuals affected by this condition. You can explore their website at https://meboresearch.org for further information. Participating in a patient registry or natural history study may also provide valuable insights into your condition and contribute to ongoing research efforts.
Currently, there is one active clinical trial related to trimethylaminuria. Additionally, the orphan drug paracoccus aminovorans has been designated for development, although it is not yet approved. For more information about ongoing trials, you can visit ClinicalTrials.gov at this link: https://clinicaltrials.gov/search?cond=trimethylaminuria. This research offers hope for future treatment options.
Actionable guidance for navigating care for trimethylaminuria
To navigate trimethylaminuria, consider consulting a metabolic specialist with experience in inborn errors of metabolism. This specialist can provide tailored management strategies. Additionally, the MEBO Research organization offers resources and support for individuals affected by this condition. You can explore their website at https://meboresearch.org for further information. Participating in a patient registry or natural history study may also provide valuable insights into your condition and contribute to ongoing research efforts.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the trimethylaminuria community
Helpful links for rare disease information and support
The limited documentation surrounding trimethylaminuria can be frustrating. This condition affects a small number of individuals worldwide, which restricts the ability to conduct extensive clinical studies. Additionally, the genetic basis was only recently identified, leading to ongoing efforts in clinical characterization. As a result, many aspects of the condition, including its clinical features, remain inadequately documented.
To navigate trimethylaminuria, consider consulting a metabolic specialist with experience in inborn errors of metabolism. This specialist can provide tailored management strategies. Additionally, the MEBO Research organization offers resources and support for individuals affected by this condition. You can explore their website at https://meboresearch.org for further information. Participating in a patient registry or natural history study may also provide valuable insights into your condition and contribute to ongoing research efforts.
Currently, there is one active clinical trial related to trimethylaminuria. Additionally, the orphan drug paracoccus aminovorans has been designated for development, although it is not yet approved. For more information about ongoing trials, you can visit ClinicalTrials.gov at this link: https://clinicaltrials.gov/search?cond=trimethylaminuria. This research offers hope for future treatment options.
Actionable guidance for navigating care for trimethylaminuria
To navigate trimethylaminuria, consider consulting a metabolic specialist with experience in inborn errors of metabolism. This specialist can provide tailored management strategies. Additionally, the MEBO Research organization offers resources and support for individuals affected by this condition. You can explore their website at https://meboresearch.org for further information. Participating in a patient registry or natural history study may also provide valuable insights into your condition and contribute to ongoing research efforts.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the trimethylaminuria community
Helpful links for rare disease information and support
The limited documentation surrounding trimethylaminuria can be frustrating. This condition affects a small number of individuals worldwide, which restricts the ability to conduct extensive clinical studies. Additionally, the genetic basis was only recently identified, leading to ongoing efforts in clinical characterization. As a result, many aspects of the condition, including its clinical features, remain inadequately documented.
To navigate trimethylaminuria, consider consulting a metabolic specialist with experience in inborn errors of metabolism. This specialist can provide tailored management strategies. Additionally, the MEBO Research organization offers resources and support for individuals affected by this condition. You can explore their website at https://meboresearch.org for further information. Participating in a patient registry or natural history study may also provide valuable insights into your condition and contribute to ongoing research efforts.
Currently, there is one active clinical trial related to trimethylaminuria. Additionally, the orphan drug paracoccus aminovorans has been designated for development, although it is not yet approved. For more information about ongoing trials, you can visit ClinicalTrials.gov at this link: https://clinicaltrials.gov/search?cond=trimethylaminuria. This research offers hope for future treatment options.
Actionable guidance for navigating care for trimethylaminuria
To navigate trimethylaminuria, consider consulting a metabolic specialist with experience in inborn errors of metabolism. This specialist can provide tailored management strategies. Additionally, the MEBO Research organization offers resources and support for individuals affected by this condition. You can explore their website at https://meboresearch.org for further information. Participating in a patient registry or natural history study may also provide valuable insights into your condition and contribute to ongoing research efforts.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the trimethylaminuria community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 2 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.