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

Journal of Medical Case Reports

Antonina Sidoti²  Alessia Ruggeri³  Carmela Rinaldi²  Daniele Bruschetta³  Teresa Esposito¹  Concetta Scimone³  Rosalia D’Angelo² 

[1] Department of Experimental Medicine, Sec. Bottazzi, Second University of Naples, Naples, Italy;IRCCS Centro Neurolesi “Bonino-Pulejo”, Messina, Italy;Department of Biomedical Sciences and Morphological and Functional Images, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, via C. Valeria 1, I-98125 Messina, Italy

关键词: Trimethylaminuria;    Trimethylamine N-oxide;    Trimethylamine;    FMO3;    Flavin-containing monooxygenase;    Fish odor syndrome;   

Others  :  1181024
DOI  :  10.1186/1752-1947-8-328

 received in 2014-05-23, accepted in 2014-08-11,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 D’Angelo et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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