Management Guidelines
No clinical practice guidelines for primary trimethylaminuria have been published.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with primary trimethylaminuria, the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:
Determine the urinary ratio of trimethylamine (TMA) N-oxide to total TMA on a normal diet. The general rule is that the lower the ratio the more severe the disorder:
Ratios of 70%-89% are classified as mild.
Ratios lower than 70% are classified as severe.
Assess social issues associated with body odor. These may include harassment, bullying, discrimination, negative self-image, social isolation, and relationship problems . An assessment tool for evaluation of social and mental health effects of the disorder has been proposed .
Consult with a medical geneticist, certified genetic counselor, or certified advanced genetic nurse to inform affected individuals and their families about the nature, mode of inheritance, and implications of primary trimethylaminuria in order to facilitate medical and personal decision making.
Treatment of Manifestations
Strategies for the treatment of primary trimethylaminuria summarized in this section are reviewed by . Restriction of dietary trimethylamine and its precursors. In some instances the disorder can be successfully managed by dietary restriction of precursors of trimethylamine.
Source: GeneReviews — "Primary Trimethylaminuria"
