Abstract

SANCHEZ-ORTEGA, Carmen; RODRIGUEZ-MARTINEZ, Regina; RODRIGUEZ-MAYATO, Rosario  and  SANCHEZ-GARCIA, Fernando. Bromhidrosis caused by trimethylaminuria. Difficulties in its diagnosis and treatment. Rev Pediatr Aten Primaria [online]. 2021, vol.23, n.92, pp.e151-e155.  Epub Mar 13, 2023. ISSN 1139-7632.

Trimethylaminuria is a cause of bromhidrosis to be considered in pre-pubertal children, with normal development. Its relation with the ingestion, especially of marine fish, will make us suspect its existence that we will have to confirm by means of the analysis of the urinary excretion of trimetilamine and the genetic study.

We present four cases of trimethylaminuria where the most used formulas to assess increased urinary excretion of trimethylamine are analysed and discussed, as well as their correlation with the severity of the disease and with the performance of genetic tests.

Finally, the used treatments are described, and a treatment proposal is made, based on dietary recommendations and advices to parents for a better understanding and management of the disease.

Keywords : Bromhidrosis; Children; Fishy odor; Trimethylaminuria.

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