IllnessTrimethylaminuria, primary; differential diagnosis

NGS +

Trimethylaminuria causes a pungent odor reminiscent of rotten fish. The intensity of the odor can vary over time and affect many aspects of daily life. Some affecteds experience depression and social isolation. Variants in the FMO3 gene can cause trimethylaminuria, in which the breakdown of nitrogenous compounds from food is blocked. Excess trimethylamine is released in sweat, urine and breath. However, the body odor can also be caused by an excess of certain chemical compounds in the diet or by an abnormal increase in bacteria that produce trimethylamine in the digestive system. A few cases have been found in adults with liver or kidney disease; transient symptoms have been observed in a small number of premature babies and in a few healthy women during early menstruation. Most cases of trimethylaminuria are inherited in an autosomal recessive manner. Negative molecular genetic results cannot invalidate the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1103/

• Alias: FMO3 deficiency
• Alias: Fish malodor syndrome
• Alias: Fish odor syndrome
• Alias: Primary Trimethylaminuria
• Alias: Stale fish syndrome
• Alias: TMAU
• Alias: TMAuria
• Dimethylglycine dehydrogenase deficiency (DMGDH)
• Trimethylaminuria (FMO3)