Trimethylaminuria
ICD-10 E72.52 is a billable code used to indicate a diagnosis of trimethylaminuria.
Trimethylaminuria, also known as fish odor syndrome, is a rare metabolic disorder characterized by the body's inability to break down trimethylamine (TMA), a compound produced during the digestion of certain foods, particularly those rich in choline, such as fish, eggs, and certain legumes. This condition arises from a deficiency in the enzyme flavin-containing monooxygenase 3 (FMO3), which is responsible for converting TMA into a non-odorous compound. As a result, TMA accumulates in the body and is excreted in urine, sweat, and breath, leading to a strong fishy odor. The severity of symptoms can vary widely among individuals, with some experiencing mild odor and others facing significant social and psychological challenges due to the condition. Trimethylaminuria is often inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for the disorder to manifest. Diagnosis typically involves clinical evaluation, dietary history, and biochemical testing to measure TMA levels. Management focuses on dietary modifications to reduce TMA production and may include the use of antibiotics or activated charcoal to help mitigate symptoms.
Detailed family history and genetic testing results.
Patients presenting with unexplained body odor and a family history of metabolic disorders.
Ensure accurate coding of genetic tests and counseling sessions.
Comprehensive dietary assessments and patient compliance records.
Patients requiring dietary modifications to manage symptoms.
Document specific dietary restrictions and patient education efforts.
Used when confirming a diagnosis of trimethylaminuria.
Document the reason for testing and results.
Genetic counseling may be necessary.
Trimethylaminuria is primarily caused by a deficiency in the enzyme FMO3, which is responsible for metabolizing trimethylamine.
