Trimethylaminuria; Tmau

Description

Trimethylaminuria results from the abnormal presence of large amounts of volatile and malodorous trimethylamine within the body. This chemical, a tertiary aliphatic amine, is excreted in the urine, sweat (ichthyohidrosis), and breath, which take on the offensive odor of decaying fish (Mitchell, 1996).

Clinical Features

Top most frequent phenotypes and symptoms related to Trimethylaminuria; Tmau

  • Anemia
  • Hypertension
  • Splenomegaly
  • Depressivity
  • Hyperhidrosis
  • Anxiety
  • Tachycardia
  • Neutropenia
  • Abnormal bleeding
  • Abnormality of the cardiovascular system

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Trimethylaminuria; Tmau Is also known as fish-odor syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Trimethylaminuria; Tmau Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FMO3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

FMO3
Specificity
100 %
Genes
100 %
Trimethylaminuria (sequence analysis of FMO3 gene).

By CGC Genetics (Portugal).

FMO3
Specificity
100 %
Genes
100 %
Trimethylaminuria via FMO3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

FMO3
Specificity
100 %
Genes
100 %
Trimethylaminuria.

By Centogene AG - the Rare Disease Company (Germany).

FMO3
Specificity
100 %
Genes
100 %
Trimethylaminuria (Fish Odor Syndrome).

By Laboratory of Human Genetics GENOMED Health Care Center (Poland).

FMO3
Specificity
100 %
Genes
100 %
FMO3.

By Division Human Genetics Medical University Innsbruck (Austria).

FMO3
Specificity
100 %
Genes
100 %
Trimethylaminuria: FMO3 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

FMO3
Specificity
100 %
Genes
100 %
Trimethylaminuria: FMO3 gene mutation analysis (R51G).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

FMO3
Specificity
100 %
Genes
100 %

We have 7 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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