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Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin
Author(s) -
Scimone Concetta,
Alibrandi Simona,
Donato Luigi,
Giofrè Salvatore V.,
Rao Giacomo,
Sidoti Antonina,
D'Angelo Rosalia
Publication year - 2021
Publication title -
journal of clinical pharmacy and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.622
H-Index - 73
eISSN - 1365-2710
pISSN - 0269-4727
DOI - 10.1111/jcpt.13315
Subject(s) - riboflavin , choline , trimethylamine , urine , enzyme , chemistry , biology , medicine , biochemistry
What is known and objective Trimethylaminuria is a metabolic disorder characterized by excessive excretion of trimethylamine in body fluids following FMO3 gene mutations. Secondary forms of the disease may be due to consumption of trimethylamine precursor‐rich foods or metabolism of some xenobiotics. Case summary A HIV patient developed secondary trimethylaminuria following antiretroviral treatment. Riboflavin supplementation ameliorated his phenotype. 1 H‐NMR confirmed increased urine level of TMA. Several genes involved in choline catabolism harboured missense mutations. Riboflavin supplement improved enzymatic activity of mutated enzymes promoting TMA clearance. What is new and conclusion Antiretrovirals may increase the concentration of TMA precursors. The present study reports antiretroviral treatment as risk factor for such secondary trimethylaminuria. Riboflavin is an effective treatment.