China
Africa
Explore chapters and articles related to this topic
Fish Odor Syndrome/Trimethylaminuria
Published in Charles Theisler, Adjuvant Medical Care, 2023
This syndrome results in body odor analogous to rotting fish. This is due to a genetic inability to convert trimethylamine into the compound choline and carnitine to trimethylamine N-oxide. This results in an excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals. The odor interferes with relationships, social life, and career. Some individuals with trimethylaminuria experience marked depression and social isolation as a result of this condition.
Choline bitartrate and acetylcholine
Published in Linda M. Castell, Samantha J. Stear (Nottingham), Louise M. Burke, Nutritional Supplements in Sport, Exercise and Health, 2015
Free serum choline concentrations vary with dietary choline and lecithin intake. Supplementation is reported to raise blood levels within 45 minutes of choline ingestion (Spector et al., 1995). Oral ingestion of some forms of choline supplements may cause gastrointestinal side effects leading to fishy body odours (a genetic disorder, trimethylaminuria). Small supplemental doses are not considered harmful at this time and the upper safe limit is set at 3–3.5g for adults (National Academy of Sciences, 2014). Athletes with gout are advised to avoid choline supplementation. Despite several studies showing choline supplementation elevating plasma choline concentrations there is no evidence this has translated into benefits in athletic performance or reductions in fatigue.
Choline *
Published in Judy A. Driskell, Ira Wolinsky, Sports Nutrition, 2005
Patricia A. Deuster, Jamie A. Cooper
The fishy body odor associated with high intakes of choline reflects excessive production and excretion of trimethylamine, a metabolite of choline.1–3 Trimethylamine is eliminated from the body through urination, sweating, respiration and other bodily secretions. In contrast to choline, ingestion of phosphatidylcholine does not typically cause a fishlike odor, because its conversion to trimethylamine is limited. Some individuals (0.1 to 11.0% of the population) have a metabolic disorder, trimethylaminuria, where large amounts of trimethylamines are formed and excreted in the urine.93 Trimethylaminuria may be inherited as an autosomal dominant genetic trait or acquired as a result of treatment with large doses of L-carnitine.93 The disorder arises from a lack or impairment in the ability of the liver enzyme, trimethylamine-N-oxide synthetase, to convert the odorous compound trimethylamine to the non-odorous trimethylamine-N-oxide. Persons with this metabolic disorder should restrict their intake of choline.93 In addition, persons with various types of liver and renal disease, depression and Parkinson’s disease may be at increased risk when taking supplemental choline.
Flavin-containing monooxygenase 3 (FMO3): genetic variants and their consequences for drug metabolism and disease
Published in Xenobiotica, 2020
Ian R. Phillips, Elizabeth A. Shephard
Primary trimethylaminuria is caused by homozygous or compound heterozygous variants of the FMO3 gene (OMIM 136132) that abolish or severely affect the production or activity of FMO3. The first causative variant identified was c.458C>T[p.(Pro153Leu)] (Dolphin et al., 1997b; Treacy et al., 1998). In this review, numbering of coding-region variants is based on the transcript reference sequence NM 001002294.2. Subsequently, more than 40 genetic variants that cause trimethylaminuria have been identified (reviewed in Gao et al., 2016; Phillips & Shephard, 2008; Phillips et al., 2007; Yamazaki & Shimizu, 2013). These include missense and nonsense variants, small (1- or 2-bp) deletions and a large (12.2-kb) deletion. In one case, the haplotype in which a variant occurs is important: c.560T>C[p.(Val187Ala)] has no effect on FMO3 activity, but when it occurs in cis with the common polymorphic variant c.472G>A[p.(Glu158Lys)] (see below), that is, p.[(Glu158Lys);(Val187Ala)], it markedly decreases enzyme activity and contributes to severe trimethylaminuria (Motika et al., 2009). A human FMO3 locus-specific database has been established (Hernandez et al., 2003) (https://databases.lovd.nl/shared/genes/FMO3) that catalogues genetic variants of FMO3, including those causative of trimethylaminuria. A comprehensive description of genetic variants of FMO3 that cause trimethylaminuria is beyond the scope of this review.
Novel variants and haplotypes of human flavin-containing monooxygenase 3 gene associated with Japanese subjects suffering from trimethylaminuria
Published in Xenobiotica, 2019
Makiko Shimizu, Hiromi Yoda, Narumi Igarashi, Miki Makino, Emi Tokuyama, Hiroshi Yamazaki
The 787 potential trimethylaminuria sufferers were diagnostically assessed by determining the percentage of total urinary trimethylamine and trimethylamine N-oxide excreted as trimethylamine N-oxide under daily food intake. The concentrations of trimethylamine and trimethylamine N-oxide in urine were determined by gas chromatography using a flame ionization detector (Yamazaki et al., 2004). Briefly, the trimethylamine concentration in the urine was directly analyzed by headspace gas chromatography after the addition of 10 M NaOH to urinary samples and preheating to 95 °C for 20 min. Trimethylamine N-oxide concentrations were calculated by subtracting the concentration of free trimethylamine from that of total trimethylamine (free trimethylamine plus trimethylamine N-oxide) after chemical reduction of trimethylamine N-oxide to trimethylamine by TiCl3. Intra- and inter-assay variations for free and total trimethylamine concentrations were within 5% under the present conditions (Yamazaki et al., 2004). The detection limit for trimethylamine concentration was 0.01 µg/mL of urine.
Volatile organic compounds from exhaled breath in schizophrenia
Published in The World Journal of Biological Psychiatry, 2022
Carina Jiang, Henrik Dobrowolny, Dorothee Maria Gescher, Gabriela Meyer-Lotz, Johann Steiner, Christoph Hoeschen, Thomas Frodl
As the PTR-MS might give the same molecular masses for different substances, we must identify the underlying molecules of our results, based on literature research and mass-banks. At least masses m/z 60 and 90 might be associated with the microbiome and m/z 85 to nutrition. Mass 60 could be identified as trimethylamine (TMA), an organic compound by the formula of N(CH3)3. The human gut microbiota synthesises TMA by the ingestion of certain plants and animals (e.g. red meat, egg yolk). TMA is then absorbed into the blood stream. High levels of this compound can lead to the development of trimethylaminuria. This can be caused by ingesting large amounts of supplements containing L-carnitine or by a genetic defect in the TMA-degrading enzyme. TMA is also known to cause the odour of some human infections, bad breath and bacterial vaginosis (Kasper et al. 2017) and in this case should be increased. Instead, patients with schizophrenia had significantly lower values than healthy controls and thus more likely related to microbiota synthesis. Interestingly, the gut microbiota can modulate brain function and behaviour through the microbiome-gut-brain axis (Cryan and Dinan 2012). Gut microbiota changes were recently found in 63 patients with schizophrenia compared to 69 healthy controls with a discrimination AUC of 0.769 (Zheng et al. 2019). Limitations of faecal microbiome samples in patients with severe mental disorders might stem from the fact that collection and fast processing of these samples is problematic in line with the small number of current published studies. Thus, studies of oropharyngeal microbiome have also been carried out. Focussing on bacteriophages and viruses that infect bacteria and alter their metabolism it was detected that Lactobacillus phage phiadh was significantly abundant in schizophrenia compared to controls (Yolken et al. 2015). Moreover, in 16 patients with schizophrenia reduced diversity of species and abundance of species like Lactobacillus gasseri were detected compared to healthy controls (Castro-Nallar et al. 2015).