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Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children

Overview of attention for article published in Journal of Inherited Metabolic Disease, February 2006
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  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#41 of 734)
  • High Attention Score compared to outputs of the same age (82nd percentile)
  • High Attention Score compared to outputs of the same age and source (80th percentile)

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3 patents
1 Facebook page


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62 Mendeley
Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children
Published in
Journal of Inherited Metabolic Disease, February 2006
DOI 10.1007/s10545-006-0158-6
Pubmed ID

R. A. Chalmers, M. D. Bain, H. Michelakakis, J. Zschocke, R. A. Iles


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 FMO3 gene. Trimethylaminuria or 'fish odour syndrome' 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-oxide (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 in vivo and is a useful adjunct to molecular studies. Patients homozygous for the 'common' P153L mutation in the FMO3 gene showed virtual complete lack of residual TMA N-oxidative 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-oxidative capacity. A further patient, heterozygous for two novel sequence variations in the FMO3 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. 'Best-practice' diagnostic and treatment guidelines are summarized.

Mendeley readers

The data shown below were compiled from readership statistics for 62 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
India 1 2%
Japan 1 2%
Czechia 1 2%
Unknown 59 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 12 19%
Student > Ph. D. Student 10 16%
Other 8 13%
Student > Bachelor 8 13%
Unspecified 5 8%
Other 19 31%
Readers by discipline Count As %
Medicine and Dentistry 18 29%
Agricultural and Biological Sciences 13 21%
Biochemistry, Genetics and Molecular Biology 12 19%
Unspecified 7 11%
Chemistry 6 10%
Other 6 10%

Attention Score in Context

This research output has an Altmetric Attention Score of 7. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 September 2014.
All research outputs
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Outputs from Journal of Inherited Metabolic Disease
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Outputs of similar age
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Outputs of similar age from Journal of Inherited Metabolic Disease
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Altmetric has tracked 9,633,164 research outputs across all sources so far. Compared to these this one has done well and is in the 83rd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 734 research outputs from this source. They receive a mean Attention Score of 2.8. This one has done particularly well, scoring higher than 94% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 125,815 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 82% of its contemporaries.
We're also able to compare this research output to 5 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them