Trimethylaminuria

This code identifies trimethylaminuria, a rare metabolic disorder characterized by the body's inability to properly metabolize trimethylamine (TMA), a compound produced by gut bacteria from certain foods. This leads to an accumulation of TMA in the body, which is then excreted in sweat, urine, and breath, causing a strong, fishy body odor.

Assign this code for patients diagnosed with primary trimethylaminuria, often referred to as "fish odor syndrome." Documentation should clearly indicate a confirmed diagnosis, typically through urine analysis detecting elevated levels of trimethylamine and its N-oxide. This code is appropriate for managing the condition, including dietary interventions.

• Ensure documentation specifies a confirmed diagnosis of trimethylaminuria, not just symptoms of body odor.
• Do not confuse with other causes of body odor, which may require different symptom-based or underlying condition codes.
• Consider any associated genetic testing results if available, though they do not change the primary diagnosis code.