Trimethylaminuria

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Classification according to ICD-10
E88.8 Other specified metabolic disorders
trimethylaminuria
ICD-10 online (WHO version 2019)

Trimethylaminuria , even fish-odor syndrome or fish odor syndrome , is an autosomal - recessive metabolic disorder.

description

Patients with trimethylaminuria smell like old fish. They secrete abnormal amounts of trimethylamine through body fluids such as sweat or urine .

root cause

Trimethylamine (TMA) is typically in the liver through the enzymes of the family of flavin - monooxygenases oxidized (FMO), and thus to odorless trimethylamine N-oxide (TMAO). The most common form of this liver enzyme is encoded in the FMO3 gene in chromosome region 1q23-q25 and is highly polymorphic . It is believed that mutations in this gene lead to an enzyme deficit in the liver and thus trigger this metabolic disease .

Diagnosis and treatment

The concentration of TMAO and TMA in the urine can be determined with the help of proton NMR spectroscopy . The ratio TMAO / (TMAO + TMA) is also of diagnostic importance. The prevalence is estimated at around 1%. However, this value is uncertain because little is known about the defect. It is diagnosed more often in women because they feel much more limited by symptoms than men.

Treatment consists of a diet aimed at eliminating precursors of trimethylamine (e.g. choline and carnitine ) from the diet, and short-term medication of neomycin and metronidazole (400 mg per day). Drugs that affect the liver's metabolism should be avoided.