Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report
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چکیده
منابع مشابه
Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report
INTRODUCTION Trimethylaminuria is a rare inherited disorder due to decreased metabolism of dietary-derived trimethylamine by flavin-containing monooxygenase 3. Several single nucleotide polymorphisms of the flavin-containing monooxygenase 3 gene have been described and result in an enzyme with decreased or abolished functional activity for trimethylamine N-oxygenation thus leading to trimethyla...
متن کاملTrimethylaminuria (fish-odor syndrome): a case report.
BACKGROUND Trimethylaminuria (fish-odor syndrome) is a rare metabolic disorder characterized by a body malodor similar to that of decaying fish. The condition results from mutations affecting the flavin-containing monooxygenase 3 (FMO3) gene. Affected individuals may exhibit a variety of psychosocial phenomena. A high index of suspicion for this disorder needs to be maintained when treating ind...
متن کاملFish odor syndrome: a case report of trimethylaminuria.
Trimethylaminuria is a rare, autosomal recessive, metabolic disorder that results in accumulation of trimethylamine (TMA), which smells like rotten fish. The chemical is excreted in sweat and urine owing to a deficiency in the enzyme flavin monooxygenase 3 (FMO3). We report a case of trimethylaminuria in a 12-year-old girl. The patient failed treatment with diet and hygiene modification, but ac...
متن کاملTrimethylaminuria: the fish malodor syndrome.
The fish malodor syndrome (also known as the fish odor syndrome and trimethylaminuria) is a metabolic disorder characterized by the presence of abnormal amounts of the dietary-derived tertiary amine, trimethylamine, in the urine, sweat, expired air, and other bodily secretions. Trimethylamine itself has the powerful aroma of rotting fish, and this confers upon the sufferer a highly objectionabl...
متن کاملA compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea
Trimethylaminuria (TMAuria), known as "fish odor syndrome," is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine (TMA) in the breath, sweat, and body secretions and the excretion of TMA along with urine. TMAuria is an autosomal recessive disorder caused by mutations in flavin-containing monooxygenase ...
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ژورنال
عنوان ژورنال: Journal of Medical Case Reports
سال: 2014
ISSN: 1752-1947
DOI: 10.1186/1752-1947-8-328