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Primary Trimethylaminuria

Primary Trimethylaminuria

Ian R Phillips, Elizabeth A Shephard, Margaret P Adam, Holly H Ardinger, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen Stephens, Anne Amemiya

PMID: 20301282

Abstract:

Clinical characteristics:
Primary trimethylaminuria is characterized by a fishy odor resembling that of rotten or decaying fish that results from excess excretion of trimethylamine in the urine, breath, sweat, and reproductive fluids. No physical symptoms are associated with trimethylaminuria. Affected individuals appear normal and healthy; however, the unpleasant odor often results in social and psychological problems. Symptoms are usually present from birth and may worsen during puberty. In females, symptoms are more severe just before and during menstruation, after taking oral contraceptives, and around the time of menopause.
Diagnosis/testing:
The diagnosis of primary trimethylaminuria is established in a proband who:
Management:
Treatment of manifestations:
Dietary restriction of:
Use of:
Prevention of secondary complications: Planning and monitoring of diet to ensure that the daily intake of choline and folate meets recommendations for age and sex; no restriction of dietary choline during pregnancy and lactation.
Agents/circumstances to avoid: Foods with a high content of precursors of trimethylamine or inhibitors of FMO3 enzyme activity (seafoods: fish, cephalopods, and crustaceans), eggs, offal, legumes, brassicas, and soya products; food supplements and "health" foods that contain high doses of choline and lecithin; drugs metabolized by the FMO3 enzyme; circumstances that promote sweating (e.g., exercise, stress, emotional upsets).
Evaluation of relatives at risk: Biochemical testing of sibs to identify those who are affected and will benefit from management to reduce production of trimethylamine.
Genetic counseling:
Primary trimethylaminuria is inherited in an autosomal recessive manner. The parents of an affected individual are obligate heterozygotes and therefore carry one mutated allele. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible once the FMO3 pathogenic variants have been identified in the family.

Chemicals Related in the Paper:

Catalog Number	Product Name	Structure	CAS Number	Price
AP22818402	Amoxicillin Related Compound I		22818-40-2	Price

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