Fish odour syndrome: Verification of carrier detection test
Abstract
Summary: An oral trimethylamine challenge test has been used to confirm the heterozygous status of patients with ‘fish‐odour syndrome’. By measuring the percentage of total urinary trimethylamine‐related material excreted as the N‐oxide, no discrimination could be made between obligate heterozygotes (parents of ‘fish‐odour syndrome’ patients) (n=15; 96±2%, range 92–98%) and control individuals (parents of unaffected children) (n=16; 96±2%, range 93–99%) on a normal diet. However, after ingesting a trimethylamine load (600 mg base) the obligate heterozygotes were clearly distinguishable (76±3%, range 71–79%) from controls (95±2%, range 91–99%) (t‐test;p<0.001). One of a hundred apparently normal volunteers who were subsequently challenged with trimethylamine had an N‐oxidation capacity which fell within the range found among the obligate heterozygotes.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
About 95% of TMA is oxidized and excreted in urine in a 3:95 TMA:TMAO ratio.
“about 95% of TMA is oxidized as it is subsequently excreted in urine in a 3:95 TMA:TMAO ratio (132).”
From Trimethylamine <i>N</i> -Oxide, the Microbiome, and Heart and Kidney Disease (2017) · cites this paper as [132]
Cites
Ziegler, D. M., & Mitchell, C. H. (1972) · Archives of Biochemistry and Biophysics · doi:10.1016/0003-9861(72)90017-3 · Cited by 258 · see citing works
The liver microsomal FAD-containing monooxygenase. Spectral characterization and kinetic studies.
Poulsen, L. L., & Ziegler, D. M. (1979) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)50388-4 · Cited by 214 · see citing works
The fish odour syndrome: biochemical, familial, and clinical aspects.
Ayesh, R., Mitchell, S. C., Zhang, A., & Smith, R. L. (1993) · BMJ · doi:10.1136/bmj.307.6905.655 · Cited by 160 · see citing works
Self-citationZhang, A. Q., Mitchell, S. C., Ayesh, R., & Smith, R. L. (1992) · Journal of Chromatography B Biomedical Sciences and Applications · doi:10.1016/0378-4347(92)80569-c · Cited by 74 · see citing works
Self-citationTrimethylamine N-oxide synthesis: A human variant
Higgins, T. J., Chaykin, S., Hammond, K. B., & Humbert, J. R. (1972) · Biochemical Medicine · doi:10.1016/0006-2944(72)90025-7 · Cited by 65 · see citing works
Trimethylaminuria: The detection of carriers using a trimethylamine load test
Al-Waiz, M. M., Ayesh, R., Mitchell, S. C., Idle, J. R., & Smith, R. L. (1988) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01805534 · Cited by 59 · see citing works
Self-citationPsychosocial problems as the major complication of an adolescent with trimethylaminuria
Todd, W. A. (1979) · The Journal of Pediatrics · doi:10.1016/s0022-3476(79)80224-3 · Cited by 50 · see citing works
Trimethylaminuria (‘fish-odour syndrome’): A study of an affected family
Al-Waiz, M. M., Ayesh, R., Mitchell, S. C., Idle, J. R., & Smith, R. L. (1988) · Clinical Science · doi:10.1042/cs0740231 · Cited by 45 · see citing works
Self-citationCharacterization of the purified microsomal FAD-containing monooxygenase from mouse and pig liver
Sabourin, P. J., & Hodgson, E. (1984) · Chemico-Biological Interactions · doi:10.1016/0009-2797(84)90025-5 · Cited by 43 · see citing works
Trimethylaminuria: the use of choline as an aid to diagnosis
Marks, R., Greaves, M. W., Prottey, C., & Hartop, P. J. (1977) · British Journal of Dermatology · doi:10.1111/j.1365-2133.1977.tb07135.x · Cited by 41 · see citing works
Spellacy, E., Watts, R. W. E., & Goolamali, S. K. (1979) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01805663 · Cited by 28 · see citing works
Gut, I., & Conney, A. H. (1991) · Drug metabolism and drug interactions · doi:10.1515/dmdi.1991.9.3-4.201 · Cited by 7 · see citing works
Brewster, M. A., & Schedewie, H. (1983) · PubMed · Cited by 2 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Trimethylamine <i>N</i> -Oxide, the Microbiome, and Heart and Kidney Disease
Zeisel, S. H., & Warrier, M. (2017) · Annual Review of Nutrition · doi:10.1146/annurev-nutr-071816-064732 · Cited by 475 · see citing works
Treacy, E. P. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.5.839 · Cited by 228 · see citing works
Microbiology Meets Big Data: The Case of Gut Microbiota–Derived Trimethylamine
Falony, G., Vieira-Silva, S., & Raes, J. (2015) · Annual Review of Microbiology · doi:10.1146/annurev-micro-091014-104422 · Cited by 187 · see citing works
Trimethylaminuria and a humanFMO3 mutation database
Hernandez, D., Addou, S., Lee, D., Orengo, C. A., Shephard, E. A., & Phillips, I. R. (2003) · Human Mutation · doi:10.1002/humu.10252 · Cited by 105 · see citing works
Human Breath Odors and Their Use in Diagnosis
WHITTLE, C. L., Fakharzadeh, S. S., Eades, J., & Preti, G. (2007) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1384.011 · Cited by 94 · see citing works
Wahl, H. G., Hoffmann, A., Luft, D., & Liebich, H. M. (1999) · Journal of Chromatography A · doi:10.1016/s0021-9673(99)00017-5 · Cited by 90 · see citing works
Trimethylaminuria Is Caused by Mutations of the FMO3 Gene in a North American Cohort
Akerman, B. R., Lemass, H., Chow, L. M. L., Lambert, D. M., Greenberg, C. R., Bibeau, C., Mamer, O., & Treacy, E. P. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1999.2885 · Cited by 78 · see citing works
Role of the Microbiome in Gut-Heart-Kidney Cross Talk
Glorieux, G., Nigám, S. K., Vanholder, R. C., & Verbeke, F. (2023) · Circulation Research · doi:10.1161/circresaha.123.321763 · Cited by 75 · see citing works
Population-Specific Polymorphisms of the Human FMO3 Gene: Significance for Detoxication
Cashman, J. R., Akerman, B. R., Forrest, S. M., & Treacy, E. P. (2000) · Drug Metabolism and Disposition · doi:10.1016/s0090-9556(24)15124-0 · Cited by 73 · see citing works
Yamazaki, H., Fujieda, M., Togashi, M., Saito, T., Preti, G., Cashman, J. R., & Kamataki, T. (2004) · Life Sciences · doi:10.1016/j.lfs.2003.10.022 · Cited by 72 · see citing works
Annunziata, G., Maisto, M., Schisano, C., Ciampaglia, R., Narciso, V., Hassan, S. T. S., Tenore, G. C., & Novellino, E. (2019) · Frontiers in Pharmacology · doi:10.3389/fphar.2019.00575 · Cited by 72 · see citing works
Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria
Yeung, C. K., Adman, E. T., & Rettie, A. E. (2007) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2007.04.014 · Cited by 68 · see citing works
Yamazaki, H., & Shimizu, M. (2013) · Biochemical Pharmacology · doi:10.1016/j.bcp.2013.03.020 · Cited by 65 · see citing works
Robinson-Cohen, C., Newitt, R., Shen, D. D., Rettie, A. E., Kestenbaum, B. R., Himmelfarb, J., & Yeung, C. K. (2016) · PLOS ONE · doi:10.1371/journal.pone.0161074 · Cited by 63 · see citing works
Via, A. D., Gargari, G., Taverniti, V., Rondini, G., Velardi, I., Gambaro, V., Visconti, G. L., Vitis, V. D., Gardana, C., Ragg, E. M., et al. (2019) · Nutrients · doi:10.3390/nu12010062 · Cited by 62 · see citing works
Treatments of trimethylaminuria: where we are and where we might be heading
Schmidt, A. C., & Leroux, J. (2020) · Drug Discovery Today · doi:10.1016/j.drudis.2020.06.026 · Cited by 53 · see citing works
Transient trimethylaminuria in childhood
Mayatepek, D. K. E., & Kohlmüller, D. (1998) · Acta Paediatrica · doi:10.1080/080352598750031257 · Cited by 54 · see citing works
Rehman, H. U. (1999) · Postgraduate Medical Journal · doi:10.1136/pgmj.75.886.451 · Cited by 53 · see citing works
Grabowska-Polanowska, B., Mochalski, P., Śliwka, I., & Amann, A. (2010) · Journal of Breath Research · doi:10.1088/1752-7155/4/2/026002 · Cited by 50 · see citing works
Brunelle, A. N., Bi, Y., Lin, J., Russell, B. A., Luy, L., Berkman, C. E., & Cashman, J. R. (1997) · PubMed · Cited by 48 · see citing works
In Vivo Variability of TMA Oxidation Is Partially Mediated by Polymorphisms of the FMO3 Gene
Lambert, D. M., Mamer, O., Akerman, B. R., Choinière, L., Gaudet, D., Hamet, P., & Treacy, E. P. (2001) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2001.3189 · Cited by 46 · see citing works
Mitchell, S. C. (1996) · Perspectives in biology and medicine · doi:10.1353/pbm.1996.0003 · Cited by 46 · see citing works
Self-citationTwo novel mutations of theFMO3 gene in a proband with trimethylaminuria
Akerman, B. R., Forrest, S. M., Chow, L., Youil, R., Knight, M. A., & Treacy, E. P. (1999) · Human Mutation · doi:10.1002/(sici)1098-1004(1999)13:5 · Cited by 45 · see citing works
Mutation, polymorphism and perspectives for the future of human flavin-containing monooxygenase 3
Zhou, J., & Shephard, E. A. (2006) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2005.09.001 · Cited by 42 · see citing works
Yamazaki, H., Fujita, H., Gunji, T., Zhang, J., Kamataki, T., Cashman, J. R., & Shimizu, M. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.08.008 · Cited by 40 · see citing works
Trimethylaminuria (fish‐odour syndrome) and oral malodour
Mitchell, S. C. (2005) · Oral Diseases · doi:10.1111/j.1601-0825.2005.01081.x · Cited by 40 · see citing works
Self-citationDiagnosis of suspected trimethylaminuria by NMR spectroscopy
Podadera, P., Arêas, J. A. G., & Lanfer‐Marquez, U. M. (2004) · Clinica Chimica Acta · doi:10.1016/j.cccn.2004.09.006 · Cited by 31 · see citing works
Extending PTR based breath analysis to real-time monitoring of reactive volatile organic compounds
Pugliese, G., Trefz, P., Brock, B., Schubert, J. K., & Miekisch, W. (2019) · The Analyst · doi:10.1039/c9an01478k · Cited by 29 · see citing works
New Insight into the Dietary Cause of Atherosclerosis: Implications for Pharmacology
Spector, R. (2016) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.116.233296 · Cited by 29 · see citing works
Sibirny, V. A., Demkiv, O. M., Клепач, Г. М., Honchar, T., & Gonchar, M. V. (2011) · Food Chemistry · doi:10.1016/j.foodchem.2010.12.146 · Cited by 28 · see citing works
Andraos, S., Lange, K., Clifford, S. A., Jones, B., Thorstensen, E. B., Kerr, J. A., Wake, M. A., Saffery, R., Burgner, D. P., & O'Sullivan, J. M. (2020) · Current Developments in Nutrition · doi:10.1093/cdn/nzaa103 · Cited by 28 · see citing works
Veeravalli, S., Karu, K., Phillips, I. R., & Shephard, E. A. (2017) · MethodsX · doi:10.1016/j.mex.2017.09.004 · Cited by 23 · see citing works
Hsu, W.-Y., Lo, W., Lai, C., Tsai, F., Tsai, C., Tsai, Y., Lin, W., & Chao, M. (2007) · Rapid Communications in Mass Spectrometry · doi:10.1002/rcm.3043 · Cited by 22 · see citing works
Discontinuous distribution of N-oxidation of dietary-derived trimethylamine in a British population
Zhang, A. Q., Mitchell, S. C., & Smith, R. L. (1996) · Xenobiotica · doi:10.3109/00498259609052497 · Cited by 21 · see citing works
Self-citationTrimethylaminuria (Fish-Odor Syndrome)
Arseculeratne, G., Wong, A. K. C., Goudie, D. R., & Ferguson, J. (2007) · Archives of Dermatology · doi:10.1001/archderm.143.1.81 · Cited by 20 · see citing works
Mo, F., Zheng, J., Wang, P., Lian, L., Yi, G., Xu, G., & Yang, N. (2013) · PLoS ONE · doi:10.1371/journal.pone.0081416 · Cited by 19 · see citing works
Breath analysis as promising indicator of hemodialysis efficiency
Grabowska-Polanowska, B., Miarka, P., Skowron, M., Chmiel, G., Pietrzycka, A., & Śliwka, I. (2018) · Clinical and Experimental Nephrology · doi:10.1007/s10157-018-1625-8 · Cited by 9 · see citing works
Shimizu, M., Uehara, S., Suemizu, H., & Yamazaki, H. (2020) · Drug Metabolism and Pharmacokinetics · doi:10.1016/j.dmpk.2020.11.004 · Cited by 5 · see citing works
Trimethylamine N-oxide (TMAO) acutely alters ionic currents but does not increase cardiac cell death
Esposito, S., McGuinness, L. R., Sharma, P., Chadwick, A. E., & Rainbow, R. D. (2025) · Frontiers in Physiology · doi:10.3389/fphys.2025.1505813 · Cited by 5 · see citing works
Gabashvili, I. S. (2021) · medRxiv · doi:10.1101/2021.01.25.21250101 · Cited by 3 · see citing works
HAMID, X. W. M. A., Xi, W. A. N. G., Xiangdong, D. I. N. G., Chuduan, W. A. N. G., & Xingbo, Z. H. A. O. (2014) · Frontiers of Agricultural Science and Engineering · doi:10.15302/j-fase-2014034 · Cited by 2 · see citing works
Exploring phenylketonuria through mathematical models: enzyme kinetics and genetic probabilities
Singh, R., Chaudhary, A., & Nishad, D. K. (2025) · Network Modeling Analysis in Health Informatics and Bioinformatics · doi:10.1007/s13721-025-00625-y · Cited by 1 · see citing works
Hamid, M. A. (2012) · AFRICAN JOURNAL OF BIOTECHNOLOGY · doi:10.5897/ajb11.2290 · Cited by 1 · see citing works
Costa, L. G., & Eaton, D. L. (2005) · Wiley eBooks · doi:10.1002/0471758043.biblio
- Authors
- Zhang, A. Q., Mitchell, S., & Smith, R.
- Affiliations
- St Mary's Hospital (GB)
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 1995-05-26
- Volume
- 18
- Issue
- 6
- Pages
- 669-674
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W1999073951
- Cited by
- 44
- References
- 13
- Citations by year
- 2025: 2 · 2023: 1 · 2021: 1 · 2020: 3 · 2019: 3 · 2018: 1 · 2017: 2 · 2016: 2 · 2015: 1 · 2014: 1 · 2013: 2 · 2012: 1
- FWCI
- 1.12
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Life Sciences › Pharmacology, Toxicology and Pharmaceutics › Pharmacology › Pharmacogenetics and Drug Metabolism
- Keywords
- trimethylamine N-oxide, trimethylamine, oral challenge test, heterozygote detection, carrier detection
- MeSH terms
- Adult, Female, Genetic Carrier Screening, Humans, Male, Metabolism, Inborn Errors, Methylamines, Odorants, Syndrome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review