Trimethylaminuria

Trimethylaminuria, also Fish -odor syndrome, is an autosomal recessive metabolic disease.

Description

Contracted Trimethylaminuria or even the so-called " fish odor " syndrome patients smell like old fish. They secrete body fluids such as sweat or urine abnormal amounts of trimethylamine from.

Cause

Trimethylamine (TMA ) is normally oxidized in the liver by enzymes of the family of flavin monooxygenases ( FMO ) and thus to odorless trimethylamine N- oxide ( TMAO ). The most common form of this liver enzyme is located in the FMO3 gene in the chromosomal region 1q23 - q25 encodes ago and is highly polymorphic. It is believed that mutations in this gene result in an enzyme deficiency in the liver and thus causes this metabolic disease.

Diagnosis and treatment

With the aid of proton NMR spectroscopy, the concentration of TMAO and TMA can be determined in urine. Diagnostic significance of the relationship TMAO / ( TMAO TMA). The prevalence is estimated to be about 1%. However this value is uncertain because the defect is poorly understood. He is more commonly diagnosed in women because they are more limited by the symptoms feel than men.

Treatment consists of a diet with the aim of precursors of trimethylamine (eg, choline and carnitine ) to exclude from the diet, and in a short-term medication of neomycin and metronidazole (400 mg per day). Drugs that affect the liver metabolism, should be avoided.