{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:36:20Z","timestamp":1792643780840,"version":"4.5.0"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,2,1]],"date-time":"2006-02-01T00:00:00Z","timestamp":1138752000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Persistent trimethylaminuria in children is caused by autosomal recessively inherited impairment of hepatic trimethylamine (TMA) oxidation due to deficiency of flavin monooxygenase 3 (FMO3) secondary to mutations in the\n                    <jats:italic>FMO3<\/jats:italic>\n                    gene. Trimethylaminuria or \u2018fish odour syndrome\u2019 is due to excessive excretion into body fluids and breath of TMA derived from the enterobacterial metabolism of dietary precursors. The disorder is present from birth but becomes apparent as foods containing high amounts of choline or of trimethylamine\n                    <jats:italic>N<\/jats:italic>\n                    \u2010oxide (TMAO) from marine (sea or saltwater) fish are introduced into the diet. In our experience, trimethylaminuria (FMO3 deficiency) in children is rare. We have compared the dynamics and diagnostic efficacy of choline loading with marine fish meals in six children with trimethylaminuria. Loading with a marine fish meal provides a simple and acceptable method for confirmation of diagnosis of suspected trimethylaminuria in children, with the effects being cleared more quickly than with a choline load test. However, oral loading with choline bitartrate allows estimation of residual oxidative capacity\n                    <jats:italic>in vivo<\/jats:italic>\n                    and is a useful adjunct to molecular studies. Patients homozygous for the \u2018common\u2019 P153L mutation in the\n                    <jats:italic>FMO3<\/jats:italic>\n                    gene showed virtual complete lack of residual TMA\n                    <jats:italic>N<\/jats:italic>\n                    \u2010oxidative capacity, consistent with a nonfunctional or absent FMO3 enzyme, whereas a patient with the M82T mutation showed some residual oxidative capacity. A patient compound heterozygous for two novel mutations, G193E and R483T, showed considerable residual\n                    <jats:italic>N<\/jats:italic>\n                    \u2010oxidative capacity. A further patient, heterozygous for two novel sequence variations in the\n                    <jats:italic>FMO3<\/jats:italic>\n                    gene, consistently showed malodour and elevated urinary TMA\/TMAO ratios under basal conditions but a negative response to both choline and marine fish meal loading. Comparison of the effects of administration of antibiotics (metronidazole, amoxicillin, neomycin) on gut bacterial production of trimethylamine from choline showed they all reduced TMA production to a limited extent, with neomycin being most effective. \u2018Best\u2010practice\u2019 diagnostic and treatment guidelines are summarized.\n                  <\/jats:p>","DOI":"10.1007\/s10545-006-0158-6","type":"journal-article","created":{"date-parts":[[2006,4,6]],"date-time":"2006-04-06T17:48:10Z","timestamp":1144345690000},"page":"162-172","source":"Crossref","is-referenced-by-count":72,"title":["Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children"],"prefix":"10.1002","volume":"29","author":[{"given":"R. A.","family":"Chalmers","sequence":"first","affiliation":[{"name":"Paediatric Metabolism Unit St George's Hospital Medical School London UK"},{"name":"CIMOA London BioScience Innovation Centre 2 Royal College Street London NW1 0NH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. D.","family":"Bain","sequence":"additional","affiliation":[{"name":"Paediatric Metabolism Unit St George's Hospital Medical School London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Michelakakis","sequence":"additional","affiliation":[{"name":"Institute of Child Health Aghia Sophia Children's Hospital Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Zschocke","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Heidelberg Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. A.","family":"Iles","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Metabolic Medicine Barts and the London School of Medicine and Dentistry, Queen Mary College London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2885"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1042\/cs0740231"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.307.6905.655"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-94-009-3293-7"},{"issue":"2","key":"e_1_2_1_6_1","first-page":"224","article-title":"Diagnosis of trimethylaminuria in children: marine fish versus choline load test","volume":"26","author":"Chalmers RA","year":"2003","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197610212951718"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-491"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2003.01230.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10252"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2944(72)90025-7"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1042\/bst025096s"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(70)90241-2"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197610212951706"},{"key":"e_1_2_1_15_1","first-page":"517","article-title":"Trimethylaminuria: the fish malodour syndrome","volume":"29","author":"Mitchell SC","year":"2001","journal-title":"Drug Metab Dispos"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008571-200007000-00007"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1242\/jeb.205.3.297"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01805663"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.5.839"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710420"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lfs.2003.10.022"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7112124"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0278-6915(99)00028-9"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)80019-1"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0158-6","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0158-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T01:26:56Z","timestamp":1694741216000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0158-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,2]]}},"alternative-id":["10.1007\/s10545-006-0158-6"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0158-6","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2]]}}}