Trimethylaminuria: Fish odor síndrome
DOI:
https://doi.org/10.35381/s.v.v6i3.2278Keywords:
Digestion, autosomal, syndrome. (Source, DeCS).Abstract
Objective: To present the pathophysiology of the disease and its psychosocial effects in people through a bibliographical review. Method: An investigation was carried out in reliable and evidence-based sources such as medical journals, Elsevier, ScienceDirect, ClinicalKey Pubmed and Scielo with updated information. Results and conclusions: Trimethylaminuria is a little-known pathology, many patients do not have an accurate diagnosis of this disease and there are probably many pathological variants not described in the medical literature, although new generation sequencing of exomes will reveal more mutations and genes involved. The fact that their inheritance is recessive and of variable expression makes diagnosis even more complicated, so genetic counseling is essential so that all the relatives of the affected patient can have access to the information and the genetic study if they wish.
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