FISH ODOR SYNDROME (TRIMETHYLAMINURIA), Causes, Signs and Symptoms, Diagnosis and Treatment.

. Chapters 0:00 Introduction 1:01 Causes of Fish odor syndrome 2:54 Symptoms of Fish odor syndrome 3:22 Diagnosis of Fish odor syndrome 3:52 Treatment Fish odor syndrome is a rare condition in which the body’s metabolic processes fail to break down the chemical compound trimethylamine, notable for its pungent odor. • Trimethylamine has been described as an unpleasant strong fishy smelling compound. • When the normal metabolic process fails, trimethylamine accumulates in the body and is excreted in the urine, sweat, and breath. • The intensity of the odor may vary over time. • The condition is more prevalent in women than in men. • The consequences of emitting a foul odor can be socially and psychologically damaging as it can interfere with many aspects of daily life’s affecting a person’s relationships, social life, and career, leading to other problems such as depression and isolation. CAUSES Fish odor syndrome is caused by mutations in the FMO3 gene. This gene provides instruction for an enzyme that breaks down nitrogen-containing compounds from diets, including trimethylamine. Trimethylamine is produced by bacteria in the mammalian gut during digestion of proteins from eggs, liver, legumes (soybeans and peas), certain kind of fish, and other foods. Normally, the fishy-smelling trimethylamine is converted into trimethylamine N-oxide which has no odor. If the enzyme is missing or its activity is reduced as a result of a mutation in the FMO3 gene, trimethylamine is not processed properly and can build up in the body causing the odor associated with the condition. Experts believe that stress and diet can play a large role in triggering symptoms. Most cases of fish odor syndrome appear to be inherited in an autosomal recessive pattern, which means that a person inherits two mutated genes, one from each parent. Most often, the parents of an individual with an autosomal recessive condition are each carrier of the mutated gene, meaning that each parent carries one copy of the mutated gene. Carriers of an FMO3 mutation may have mild symptoms or experience temporary episodes of strong body odor.