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Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report.

ABSTRACT: 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 trimethylaminuria. CASE PRESENTATION: Here we investigated an Italian family in which the proband was a 7-year-old girl with suspected trimethylaminuria, by flavin-containing monooxygenase 3 gene direct sequencing and urinary determination of trimethylamine and trimethylamine N-oxide. Genetic analysis found that, as with her parents and one of her two brothers, the proband carried three polymorphisms: c.472 G>A p. E158K (rs 2266782) in exon 4, c.627+10 C>G (IVS5+10G>C) (rs 2066534) and c.485-21 G>A (IVS4-22G>A) (rs 1920149) in intronic regions. CONCLUSIONS: Despite the same genotypic condition only the girl had symptoms attributable to the trimethylaminuria. The suspicion is that she has transient childhood trimethylaminuria. Therefore, we bring attention to the importance of genetic testing and eventual determination of urinary trimethylamine and trimethylamine N-oxide as instruments to offer to clinicians in the management of these pediatric patients.

SUBMITTER: D'Angelo R

PROVIDER: S-EPMC4190592 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report.

D'Angelo Rosalia R Scimone Concetta C Esposito Teresa T Esposito Teresa T Bruschetta Daniele D Rinaldi Carmela C Ruggeri Alessia A Sidoti Antonina A

Journal of medical case reports 20141006

<h4>Introduction</h4>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 trimethylaminuria.<h4>Case presentation</h4>Here we investigated an Italian family in which the proband w ...[more]

PMID: 25288227

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Project description:BackgroundDown syndrome (DS) is a genetic condition that involves the deregulation of immune function and is characterized by a proinflammatory phenotype leading to an impaired response to infections. Periodontitis is a highly prevalent chronic inflammatory disease. It has been shown that adults and teenagers with DS are more susceptible to this disease, but a similar correlation in DS children remains elusive. This systematic scoping review aims to address this knowledge gap by examining periodontitis in DS children, with a secondary objective of elucidating the underlying mechanisms involved.MethodsOur primary search was conducted via the PubMed/MEDLINE database and Google Scholar, covering the period from 1951-July 1st, 2024. Primary studies written in English or French were included. The excluded articles were reviews, in vitro or animal studies, studies on teenagers or adults, and studies involving patients with disabilities other than DS. The quality of evidence was assessed via the Newcastle‒Ottawa scale for observational studies and a published tool for evaluating the quality of case reports and case series.ResultsThe initial electronic database search yielded a total of 2431 articles. 58 full-text articles, comprising seven cross-sectional studies, 36 case‒control studies, seven cohort studies, and eight case reports and case series, were included in the review. Compared with healthy children or children with disabilities, DS children appear to have more severe periodontal inflammation. However, the evidence is inconclusive regarding the presence of bone loss, with studies divided on this issue. Local risk and etiopathogenetic factors do not seem to play a significant role in increased inflammation. Instead, this difference could be attributed to the general proinflammatory phenotype of children with DS.ConclusionsDS children seem to have higher periodontal inflammation than other children, but no periodontal bone loss. Investigating periodontal inflammation in DS children could provide valuable insights into the deregulation of immune function in these patients.

Dataset Information

Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report.

Publications

Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report.

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