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Intestinal Metabolic Bromhidrosis Syndrome Alliance

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As odorous intestinal metabolites cross the intestinal wall barrier and liver they are excreted in sweat and breath. The resulting symptoms are called Bromhidrosis and Halitosis.

Information for Patients
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How to enroll?

IMBS patients can enroll themselves in an international patient registry that is hosted at the CoRDS (Sanford Research) platform.

Please find more detailed information about the patient registry in the following flyer: Patient Registry Info Flyer

We highly recommend each and every patient to enroll in the registry as the data set of this patient registry is a base which researchers rely on to make fundamental decisions about an investigation and which kind of investigations in a rare disease patient cohort.

Enroll now!

Note:

It is very important to choose in the first registration page "Intestinal Metabolic Bromhidrosis Syndrome" as rare disease condition. (Also choose this in the case it is only suspected and not diagnosed yet)

rare_disease_choice.png

Report:

You can download an automatically updated report based on a subset of the registry data from the following link:

IMBS Patient Registry Report

Please take a look at the following article about the new UN Resolution for rare disease patients on the website of Rare Diseases International! Rare Diseases International - UN Resolution For Persons Living With A Rare Diseases United Nations Rare Disease Resolution For Persons Living With A Rare Disease

)

Don't let us do the job alone! Don't be passive - act! Act together with us!

We are people like you, working on every front to get this disease recognized, established in medicine and solved!

Join forces with us, support us with everything you can support us with!

Tell everyone you can think of, about this text, about this group and about our goals! Tell them to join!

No one gets money for this, but maybe we all get our lives back, our social life, our work life, everything!

Share links everywhere to our community, bring the people together - join our alliance, be a member side by side with us!

Don't hesitate, don't run alone, back us up and get backed up by us!

Don't be passive - act!

Act together with us!

RareConnect

As we do not maintain an own forum, we refer to the multilingual RareConnect forum, where posts are translated to multiple languages.

RareConnect is provided by EURORDIS .

The RareConnect forum is grouped by rare disease communities. At the current point in time there are two groups available:

Forum

Discord Server

For coordination of research, email campaigns and general discussions there is a discord server available for the IMBS community.

A discord server provides a place with live chats, audio and video channels. ( Discord Homepage )

You can join a discord server via the discord android or iOS mobile app, via native windows and linux applications or your webbrowser.

Please click the following link to join the IMBS discord server:

Discord server

Patient Information

Definition

Intestinal Metabolic Bromhidrosis Syndrome (IMBS) defines a type of bromhidrosis that is caused by odorous intestinal metabolites, which pass the intestinal and liver metabolism and are excreted through the skin.

IMBS represents a group of subtly different syndromes caused by different underlying diseases, which share the fact that their patients suffer from chronic body odor. This strongly impacts their quality of life, not limited to but especially in the work environment.

Classical Medical/Dermatological View

The current support by classical medical institutions is extremely limited: Official research in the field of bromhidrosis was neglectable in the past decades and general intestinal research has not yet connected their research to the dermatological fields.

The classical dermatological research on bromhidrosis [1] mostly focuses on either topical treatments which have only a small ameliorating effect or on the removal of axillary skin glands by surgery. In cases of Trimethylaminuria (TMAU), patients currently mostly only receive dietary advice or are, in some cases, prescribed non-resorbable antibiotics [2] .

Recent Intestinal Medical Research

Newer research hypotheses focus more on the intestinal tract as the source of bromhidrosis and halitosis symptomes [3] . It is already clear that trimethylamine, which is the odorous compound responsible for TMAU type 1, is only one small player of various odorous metabolites available in the intestinal tract metabolism. There are well known further players such as carboxylates (e.g. butyrate, isovalerate), amines, sulfuric compounds, ammonia, methyl mercaptan and indole to name some of them. As the different metabolites move through their metabolic cycle, they pass, in different amounts, the intestinal wall through the intestinal epithelial layers and thus end up in the blood stream, towards the liver. In cases in which the liver metabolism is not able to handle the volume of intestinal metabolites, the metabolites pass on to be excreted by the lung gas exchange and by the outer skin sweat glands.

Bromhidrosis diseases and metabolites and gene overview

Feedback

Diagnostic

Official diagnostic tests:

  • Urine and genetic test for trimethylaminuria [1]

  • Urine and genetic test for dimethylglycinuria [2]

  • Genetic testing for SELENBP1 (Halitosis) [3]

  • Blood testing for Dimethylsulphidemia (Halitosis) [4]

  • Blood testing for Hyperammonemia in the context of weak urea cycle disorders [5]

Feedback

There are two guideline documents available for download.

The first guide is addressing patients: Patient's guide

The second guide is addressing medical practitioners: Doctor's guide

Those guides are free to copy and multiply.

If you as a patient want to visit e.g. your general practitioner with the topic of IMBS symptoms the first time, please print out the doctor's guide on paper and provide it to your general practitioner to support him/her in gathering relevant information.

Treatments

Medical treatments

Symptom Treatment Effectiveness Approved by medical studies
Fish body odor Diet / Reduction of TMA containing fish and choline, betaine and carnitine containing foods 75% Yes
Fish body odor (TMAU type 2) Prescription of non resorbable antibiotics for short periods 75% Yes
Fish body odor Riboflavin supplementation 50% Yes
Axillary body odor Strong antitranspirants 10% Yes

Non medical approved practices / Patient experience based best practices

Symptom Treatment Effectiveness Approved by medical studies
Fish and fecal body odor (TMAU type 2) Folate or MTHF supplementation unknown No
Fish and fecal body odor (TMAU type 2) Vitamine B12 supplementation unknown No
Fish and fecal body odor (TMAU type 2) Vitamine B6 supplementation unknown No
Fish and fecal body odor (TMAU type 2) SAMe supplementation unknown No
Fish and fecal body odor (TMAU type 2) Dietary avoidance of cysteine unknown No
Fecal body odor Glycine, Serine supplementation unknown No
Fecal body odor Choline and Folate supplementation unknown No
Fecal body odor Avoidance of benzoates, cinnamate and salicylates unknown No
Fecal body odor Avoidance of benzimidazoles like e.g. proton pump inhibitors unknown No
Fecal body odor Avoidance of stress unknown No
Fecal body odor Champex/Deodorex 10% No
Fecal body odor Dietary avoidance of D-Ribose unknown No
Fecal body odor Dietary avoidance of phosphoric acid + glucose / fructose (like e.g. Coca Cola) unknown No
Fecal body odor Dietary avoidance of nitrogen containing foods unknown No
Rotten eggs body odor none
Urine like body odor Protein reduction diet + prescription of non resorbable antibiotics for short periods unknown No
Urine like body odor Sodium Benzoate supplementation (consultation of a medical professional is a must!!!) unknown No
Urine like body odor Ascorbic acid (never combine with sodium benzoate - very high health risk!!!) unknown No
Urine like body odor L-Carnitine (can elevate body odor symptoms but reduce intestinal barrier impairment) unknown No
Sweat like body odor Full body application of antitranspirant + deodorant combination 10% No
Sweat/Vomit/sweaty feet like body odor Taurine, Magnesium and potassium supplements 50% No
Sweat/Vomit/sweaty feet like body odor Daily intestinal cleanings e.g. with Macrogol (can be dangerous - consultation of a medical professional upfront is a must) 30% No
Sweat/Vomit/sweaty feet like body odor Tyrosine supplements 10% No
Vomit/sweaty feet with additional urine like body odor Sodium Benzoate supplementation (consultation of a medical professional is a must) unknown No
Vomit like body odor Mangan supplements 10% No
Cabbage like body odor/halitosis Diet unknown No
IBS-C (constipation) Topinambur powder (long chain carbohydrate degrading into fructose) [Warning: Body odor elevation] 15% No
IBS-C (constipation) Magnesium oxide 15% No
IBS-C (constipation) Lactitol 15% No

Not verified and explorative tests:

Blood tests

  • Ammonia blood test (available by your general practitioner)

Amino acids blood spot tests

Urine sample tests

Tests known from research studies

  • SCFAs (including butyrate and isovalerate) blood to stool ratio ( [1] )

Other unspecific tests

  • PTH (Parathyroid hormone) blood test

  • Low blood potassium levels

Notes:

  • Organic aciduria urine tests are regularly without any result (In those diseases all organs and cell are affected and the kidneys and liver are not able to mask any metabolite)

  • In IMBS patients deficiencies of enzymes seem to be very limited to intestinal and liver metabolism, which results in masking of metabolites by liver and kidneys. Again its worth to mention the short half time below 10 minutes of butyrates in blood and also ( [2] ) once more, as the paper shows a reduction of factor 4 of e.g. butyrate levels compared from portal vein blood to blood within the circulation after the liver

  • In IMBS cases in general blood tests have the ability to reveal more direct metabolites compared to urine tests

Feedback

Rare disease centers

We encourage all patients to contact rare disease centers in their respective country. Please prepare yourself as most medical practitioners have no special or even no knowledge at all around anaerobic metabolites and that they occur in the human metabolism. Normally specialists that know about those metabolites can be found in the field of classical organic acidurias, but they normally lack special knowledge of intestinal diseases. Nevertheless they might be a first contact point which can route patients to specialist in intestinal research diagnostic. In order to help them find the correct contact persons, you can also refer them to the IMBS homepage, where they can get a detailed overview about the disease. Also make them aware that classical organic acid screenings via urine sample tests are already known to not be applicable to IMBS patients.

Official genetic testing (Germany)

In Germany it is required by law, if a genetic test should be applied, that patients receive genetic counseling before the test. Genetic counseling is normally also handled by rare disease centers, so those are a first contact point.

There are also laboratories available which allow to pay privately and also offer genetic counseling:

Note: German health insurance providers pay now for necessary genetic tests for a small number of target genes (<=20). This opens a new way also for IMBS patients with not enough private money for WES or WGS screenings to ask for genetic testing for their condition.

Feedback

Genova Diagnostics

Genova Diagnostics is a private service provider that offers mainly metabolomic but also genomic tests. They offer their services in US and UK at the moment. In normal cases they work together with specialized general practitioners as contact to private end users.

Homepage

Medivere Diagnostics

Medivere Diagnostics offers small standard blood, urine and stool tests to end users in their online shop. Their service is available in Germany.

Homepage

Cerascreen

Cerascreen provides an online shop which offers e.g. standard amino acid blood spot tests but also a wide variety of standard tests. Their online shop is available in Germany.

Homepage

IFU Wolfhagen

IFU Wolfhagen offers e.g. urine analytic panels in their online shop. Their services is available in Germandy.

Homepage

Feedback

Amino Acids

The different smell types the IMBS patients suffer from are associated to different odorous compounds. Those odorous compounds are very often also part of the close degradation or synthesis of amino acids.

Following you find the relations between odorous compounds and amino acids:

Fish odor / Trimethylamine

  • Choline

  • Betaine

  • Lecithin

  • Carnitine

Fecal body odor / Indole, Skatole

  • Tryptophan

  • Glycine

  • Serine

  • Phenylalanine

  • Tyrosine

  • Histidine

Foul eggs body odor / Sulfur compounds

  • Cysteine

  • Methionine

  • Taurine

Urine body odor / Ammonia

  • Ornithine

  • Aspartate

  • Citrulline

  • Arginine

  • Glycine

  • Serine

  • Glutamine

  • Glutamate

Vomit body odor / butyrate

  • Lysine

  • Valine

(Also amino acids from urine body odor can apply)

Sweaty feet / isovalerate

  • Leucine

  • Isoleucine

(Also amino acids from urine body odor can apply)

Rotten meat like / Putrescine, Cadaverine

  • Ornithine (Putrescine)

  • Lysine (Cadaverine)

Garbage like / Hydrogen sulfide, Dimethyl sulfide, Methanethiol, Putrescine, Cadaverine, Trimethylamine, Ammonia, Acetaldehyde, Acetate

This is a mixture of previous groups. [1]

Dietary approach

We strongly recommend to not use full elimination diets in any form for a longer period of time.

Cravings are normally a sign of the body for the need of certain nutrients. Do not ignore them in the context of a reduction diet in a context of a certain amino acid.

Also be aware that the listed amino acids are only grouped by colocation within biochemical pathway boundaries. Some diseased will perhaps only affect one amino acid within a group or also only some from a combinations of groups.

As an real life example a blood spot amino acid screening revealed following amino acids to be out of normal ranges:

  • Tryptophan: ++

  • Glycine: ++

  • Serine: ++

  • Lysine: -

  • Ornithine: ++

  • Aspartate: ++

  • Histidine: +

Symbols:

  • '++' = high above normal range

  • '+' = very high but within normal range

  • '-' = very low but within normal range

  • '--' = below normal range

As you can see such a amino acid screening might give some hints what to supplement and what to reduce within the diet.

Be still aware of the fact, that is unclear at the moment how to correctly react on certain amino acid levels to be above or below normal ranges.

There are certain hints present that some type of odorous metabolites do actually stabilize the harmed intestinal metabolism to a certain degree, others dont.

So a wrong dietary elimination choice might also increase the damage to intestinal cells over time, even if the body odor or halitosis was reduced for a period of time.

Feedback

From our personal observation in patient research, hyperhidrosis (extensive sweating) can be a correlating symptom to bromhidrosis, but it does not have to be present. We perceive only a small fraction of the patients to have actually both bromhidrosis and hyperhidrosis symptoms.

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Irritable Bowel Syndrome (IBS) [1] is defined as a chronic functional disorder of the gastrointestinal tract. It is characterized by abdominal pain and/or changes in bowel movements.

Our observation shows that about 20-30% of IMBS patients also suffer from IBS or begin to suffer after some years of chronic body odor symptoms.

Also our observation shows that a fecal body odor seems to be more likely associated with IBS-D and a sweat/vomit/sweaty feet body odor is more likely associated with IBS-C.

Feedback

Next Generation Sequencing (NGS)

Introduction

Next Generation Sequencing (NGS) is an approach to allows to sequence parts or the whole DNA/RNA strand structure of the human genomes. The NGS approach has emerged more and more in the past decade to be used as method within research studies to isolate causal relationships to diseases and their symptoms.

See also Wikibook about NGS and the underlying techniques

Criteria for NGS services

Depending on the country laws there are not only official medical institutions available that offer NGS services to patients but also private service providers.

If NGS services should utilized to get more information about a potential underlying disease, it is important to know about some important attributes of the different provided services.

  • Type of sequencing: whole genome (WGS) [1] or whole exome (WES) [2]

  • Coverage [3] : represents the number of times the sequencing covered the same target reference area

  • Sequencing result provided in file formats: VCF (with/without annotations), FASTQ, BAM

Cost perspective:

  • WGS 20x : ~ 600€

  • WES 20x : ~ 400€

(prices do heavily change over time and between different service providers)

Requirements for medical representative evaluations:

  • At the moment a minimum of a 20x coverage of the target area is accepted to allow a medical relevant interpretation

  • WGS includes the intron areas but is not yet easily interpretable as the intron areas are prone to high variations, but that improves steadily over time (so the data from today might be utilizable in the future just by reinterpretation of the data by newer software applications and new entries in the variant databases)

Regarding ancestry services like 23andMe:

The ancestry services like 23andMe are very limited in the sense of which parts of the exome area is targeted/covered and how often the target area is read (read coverage). The process of 23andme rely on genotyping approaches and not on WES or WGS. [4]

We do not recommend ancestry services for medical relevant investigations, instead we recommend at least a WES 20x offer by a service provider who provides at least annotated VCF files or even better additionally the original FASTQ files which contains the raw sequencing information.

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Medically known genes

A limited set of gene defects is already known to be related to chronic body odor and/or halitosis.

  • FMO3 (Trimethylaminuria) [1]

  • DMGDH (Dimethylglycine dehydrogenase deficiency) [2]

  • SELENBP1 (Methanethiol oxidase deficiency / EHMTO) [3]

Explorative gene candidates

For other body odor or halitosis types there are no official gene defects known so far. But there are gene candidates available that might be involved because they encode enzymes, transporters, receptors around biochemical pathways related to certain odorous metabolites.

Sweat or vomit, sweaty feet like body odor / Carboxylates, Butyrate, Isovalerate...

Direct enzyme defects:

  • ACSM2B

  • ACSM5

  • ACSM2A

Indirectly involved defects:

  • CPS1 (also as benign qualified variants with known elevated glycine levels)

Also potentially indirectly involved genes:

  • MYLK

  • ATP10B

  • AGXT2

  • SLC28A1

  • SLC23A1

  • SLC17A4

  • SLC10A2

Fecal body odor / Indole,Skatole

  • BHMT2

  • CYP2E1

  • CYP2B

  • CYP2A6

Fecal and sweat like body odor / IBS-C and IBS-D related genes

  • GUCY2C

  • TRPV3

  • SCN5A

  • AQP8

  • IDO1

  • PGP

  • GAD2

  • FAAH

  • NPSR1

  • FUT2

Semiautomated gene reports

We provide semiautomated reports based on gene analysis results from an IMBS patient cohort.

  • Genes with intestinal and liver expression that where matched by at least two patients: Report

  • Genes of IMBS patient cohort matched against genes of IBS research publications: Report

Additional note

It is not necessary that always a genetic defect is present in chronic body odor cases. There are also reports from patients that the symptoms started after food poisoning or antibiotic treatment.

So be aware that a metabolome analysis in those cases would reveal more information.

Feedback

In metabolome studies following metabolic markers have been observed to be potentially out of normal ranges in IMBS patients:

  • Benzoate / Benzoic acid

  • Hippurate / Hippuric acid

  • Tartarate / Tartaric acid

  • Orotate / Orotic acid

  • Cis-aconitate / Cis-aconitic acid

  • Succinate / Succinic acid

  • Isocitrate

  • Fumarate

  • Hydroxymethylglutarate

  • Histidine

  • Taurine

  • Threonine

  • Tryptophan

  • Glycine

  • Serine

  • Phosphoserine

  • Vanilmandelate

  • Homovanillate

  • Ornithine

  • Citrulline

  • Pyroglutamate

  • Para-hydroxyphenylacetate

  • Anserine

  • Carnosine

  • 1-Methylhistidine

  • beta-alanine

  • Linoleate / linoleic acid

  • Potassium

  • Parathyroid hormone (PTH)

Feedback

For the IMBS patient subgroup, which shows a fecal like body odor, the metabolites indole and secondary skatole are in the focus as those metabolites are creating a strong fecal like scent.

We expect at least three different types of causative reasons in those subgroups:

  • Enzyme deficiencies in directly indole degrading enzymes like e.g. CYP2E1, CYP2B, ...

  • Enzyme deficiencies in the choline -> glycine degradation pathway (BHMT2, Methyltetrahydrofolate cluster)

  • Enzyme deficiencies in the lower glycine + benzoate -> hippurate degradation pathway

Shikimate pathway forming Tryptophan over Indole

The shikimate pathway [1] is a microbial pathway which is responsible for the biosynthesis of tryptophan combining indole and glyine/serine [2] .

As its precursors glycine and serine and the product tryptophan are involved, the human degradation pathways of those amino acids might be of high relevancy for the elevated formation of indole.

Also of high importance are glutamine and glutamate as they are related to the source of the second precursor anthranilate of the indole synthesis.

Choline -> Glycine degradation pathway

A subgroup of fecal body odor patients do show also positive Trimethylaminuria urine tests. Which indicates a formation of elevated Trimethylamine (TMA) levels in the intestinal area. One reason could be a impaired choline uptake and degradation which results in an elevated degradation of choline to TMA in the intestinal lumen. As the degradation pathway of choline also affects the availability of glycine and serine, it is a promising candidate branch to be also responsible for an elevated indole concentration.

For this subgroup folate supplementation might be helpful, as folate supports the choline, betaine -> glycine, serine degradation.

Glycine + Benzoate -> Hippurate degradation pathway

In metabolome analysis results for fecal body odor patients we observed elevated benzoate with at the same time below normal ranges hippurate levels. Glycine levels were normally low but in normal range.

This is related to the glycine detoxification mechanism [3] , which could be impaired in this subgroup of IMBS patients by too low availability of glycine or serine.

If the indication of a too low availability of glycine and serine is correct, the low levels would impair the bile acid salt conjugation with glycine and lower the availability of glycine in the intestinal lumen.

The ration glycine/taurine would shift and the tryptophan formation over indole + glycine might be impaired with the result of elevated indole concentrations in the intestinal lumen.

High Glutamate, Glycine, Ornithine, Citrulline, Tryptophan, Phenylalanine, Tyrosine, Methionine, Taurine, BCAAs, Ammonia and low Arginine, Glutamine, Lysine -> Urea cycle deficiency

Elevations in various amino acids related to the ammonia degradation have been found with transitive hyperammonemia. This indicates the possibility of a second gene defect in the urea cycle pathway being the source of a fecal smell.

CYP enzyme family

Some CYP family enzymes are known to degradate indole to less odorous metabolites.

Examples are:

  • CYP2E1, CYP2B [4]

Those are prominent candidates for enzyme deficiencies that might lead to an impaired indole degradation.

Feedback

For the IMBS patient subgroup, which shows a vomit like, sweat like or sweaty feet like body odor, the main scent driving metabolites are from the carboxylates group:

  • Butyrate (Vomit like)

  • Isovalerate (Sweaty feet like, cheesy)

  • Hexanoate

We expect at least two different types of causative reasons:

  • Enzyme deficiencies in directly butyrate or isovalerate degrading enzymes like e.g. ACSM2B , ...

  • Mitochondrial impairment of intestinal barrier cells, e.g. by local hyperammonia in those cells (not systemic)

ACSM2B and deficiencies in the degradation pathway (IMBS Carboxylate Type 1)

In contrast to other odorous metabolites, the carboxylates group is a major energy source for the intestinal barrier cells and the liver.

The also known term 'short chain fatty acids' (SCFAs) refers mostly to a subset of carboxylates but also including e.g. methylated forms of them.

Following genes and enzymes are prominent candidates for enzyme deficiencies:

  • ACSM2B / EC 6.2.1.2 butyrate CoA ligase

  • A possible unknown gene encoding an isovalerate CoA ligase

Important is the aspect that e.g. the ACSM2B is also involved in salicylates, benzoate and phenylacetate in a lesser extend.

Also important:

  • Magnesium

  • Mangan

are cofactors of those enzymes. Supplementation of those could improve enzyme efficiency.

Mitochondrial impairment of the intestinal barrier cells by ammonia (IMBS Carboxylate Type 2 / IMBS CPS1)

Another possible causative situation can occur, if the mitochondrial activity of the intestinal barrier cells is impaired. One reason can be elevated cell local concentrations of ammonia, which would impair the degradation of the short chain acids (carboxylates) taken up from the colon. A typical sign in the later progress in this case can be IBS-C (constipation) symptoms which are caused from nerve function impairment e.g. in the sigma of the colon. Those symptoms can be present immediately or set in after years of the first bromhidrosis symptoms.

Food list (bad):

  • Cheese (High Glutamate)

  • Red meat (High amino acids content)

Metabolome biomarkers

Possible observations in that case are:

  • Slightly elevated ornithine, glycine, serine levels in blood

  • Also possibly slightly elevated Tryptophan, Histidine, Threonine levels in blood

  • Mainly elevated citrulline levels in urine

  • Low potassium (ammonia impairs potassium uptake indirectly by binding to the potassium receptors)

  • Low benzoate/benzoic acid levels in urine

During sodium benzoate treatment:

  • Very high hippurate/hippuric acid levels in urine

Genetic markers

  • Weak deficiencies in the CPS1 gene encoding the Carbamoyl phosphate synthetase 1 (Urea cycle disorder)

  • Example variant: rs1047883 [1]

Deficiencies in the CPS1 also including those marked as benign for hyperammonemia in the peripheral blood. Especially those which are linked also to elevated glycine levels in blood.

The qualification as benign is not related to benign in the context of IMBS as in IMBS cases the local hyperammonia in intestinal barrier cells can not necessarily be quantified by blood tests at the moment.

Treatment

  • Standard hyperammonia treatment with sodium benzoate orally (<5g distributed over the day) can show here very good effects reducing the nerve pain sensation for the IBS-C symptoms as well

  • Reducing the dietary amount of glycine and serine (or protein in general)

  • Reducing the dietary amount of glutamine, glutamate, aspartate, lysine and ornithine

  • Reducing the uptake of calcium

  • Increase of the magnesium (oxide or carbonate, not only citrate!) uptake

  • Increase of potassium uptake

  • Supplementation of Topinambur as inulin supplement, which is degraded as long chain carbohydrate to fructose mostly in the large intestinal tract (Increases the smell, but ameliorates the ammonia impairment of the mitchondria - should be taken first time after 1 week of sodium benzoate treatment)

Additional observations

  • Also an observation is that the impaired colon motility leads to fat accumulation in the colon, which could be an additional aspect related to the increased SCFAs concentrations.

  • Magnesium carbonate and oxide (also all other carbonates) should be taken in small amounts (1 capsule per day) and with care, as they easily elevate the intestinal pH up to pH 10, which can injure the intestinal wall.

Feedback

Cancer Research

Connection between subtypes of IMBS and butyrate

The field of cancer research seems to be far away from IMBS research on the first glance.

Interestingly it turns out to be the complete opposite if we take a look on biochemical side of some patient subgroups of IMBS and their affected metabolic compounds.

There are patients that report to have a very strong 'vomit' like body odor. The related metabolite known to have such an odor signature is butyrate in water solution.

What is butyrate?

Butyrate is the salt form of butyric acid which is widely known to be the major contributor to the smell of vomit.

As salt it can come in various combinations with different cations like:

  • Sodium (Na+)

  • Magnesium (Mg2+)

  • Potassium (K+)

  • Calcium (Ca2+)

E.g. sodium butyrate is also commonly available over the counter in supplement form.

Butyrate suppresses cancer growth in vitro but is not stable enough in blood stream

In the cancer research field Butryrates have been observed to have a strong growth suppressing effect of cancer cells in vitro. [1]

Unfortunately explorative studies, which tried to utilize a butyrate solution as blood infusion, failed to stabilize the butyrates in the blood circulation. Butyrates turned out to have very short stability half times of under 10 minutes before they get consumed and degraded by the human cells. [2]

Butyrate relevance in IBD

Newer research on the side of Inflammatory Bowel Disease (IBS) showed now some diagnostic advances which revealed e.g. 'naturally' elevated isobutyrate levels in a small sample group of IBD patients. [3]

In other words, carboxylates like butyrate or isobutyrate can be elevated in the intestinal -> liver axis and are obviously not causing any harm as IBD patients are normally regarded as healthy beside their intestinal inflammation issues.

Resulting hypotheses

This new direction results in two hypotheses:

  • butyrates or carboxylates (like e.g. also isovalerate) in general might also be elevated in IMBS patient groups as their odors do match exactly the signature of those compounds

  • for cancer treatment support it might be possible to reproduce similar blood levels of butyrates easily by oral over supplementation (with likely resulting bromhidrosis symptomes) and this might result in a suppressed cancer growth, if the cancer is located on the intestinal -> liver blood axis.

Additional personal observation

  • As part of a investigation and visualization of a colorectal tumour sample from a tumour located in the descending colon, we applied a double mRNA expression analysis on the tumour sample and a healthy gut wall sample close to the tumour location

  • Comparison of enzyme expression levels showed that not only the lactate dehydrogenase (LDH) was over expressed, but also e.g. the butyryl-CoA synthetase (EC 6.2.1.2) was overexpressed. This might give a first hint that the anaerobic inner cancer metabolism does also supports its ATP supply by the reverse reaction that results in a butyrate synthesis like in a typical bacterial metabolism.

  • A theoretical result would be the hypothesis that increased butyrate levels would suppress the ATP supply of the inner cancer core cells and therefore would reduce cancer growth. This hypothetical consequence is already verified by experimental investigations prior to it. (See references in the above text)

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Patient/group identifier: IMBS patients

Report date: 2022-04-01

Number of covered metabolite and sample type combinations: 233

Number of covered metabolites: 193

Number of overall measurement points: 807

Metabolite Sample type Above normal range Above normal range [% total] Below normal range Below normal range [% total]
Tryptophan BLOOD/BLOODSPOT ++++++++++ 54.55% - 0%
Histidine BLOOD/BLOODSPOT ++++++++ 41.67% - 0%
L-Ornithine BLOOD/BLOODSPOT ++++++++ 41.67% - 0%
Serine BLOOD/BLOODSPOT +++++ 25% ++ 8.33%
Glycine BLOOD/BLOODSPOT +++++++ 33.33% - 0%
Aspartic acid BLOOD/BLOODSPOT +++++ 27.27% ++ 9.09%
Hippuric acid URINE ++ 12.5% +++ 25%
Proline BLOOD/BLOODSPOT +++ 16.67% ++ 8.33%
l-Threonine BLOOD/BLOODSPOT +++ 16.67% ++ 8.33%
Glutamine BLOOD/BLOODSPOT +++ 18.18% ++ 9.09%
Phenylalanine BLOOD/BLOODSPOT +++++ 25% - 0%
4-Hydroxyphenylacetic acid URINE +++ 22.22% ++ 11.11%
Glutamic acid BLOOD/BLOODSPOT +++ 16.67% ++ 8.33%
Alanine BLOOD/BLOODSPOT +++++ 25% - 0%
3-Hydroxybutyric acid URINE +++ 28.57% - 0%
2-Hydroxybutyric acid URINE +++ 40% - 0%
l-Isoleucine BLOOD/BLOODSPOT +++ 16.67% - 0%
Ascorbic acid URINE - 0% +++ 100%
Taurine BLOOD/BLOODSPOT +++ 16.67% - 0%
Quinolinic acid URINE +++ 33.33% - 0%
Asparagine BLOOD/BLOODSPOT ++ 14.29% ++ 14.29%
Arginine BLOOD/BLOODSPOT - 0% +++ 16.67%
Tyrosine BLOOD/BLOODSPOT +++ 16.67% - 0%
Lysine BLOOD/BLOODSPOT ++ 8.33% ++ 8.33%
cis-Aconitic acid URINE - 0% +++ 40%
3-Hydroxyphenylacetic acid URINE - 0% +++ 66.67%
Citrulline URINE ++ 50% ++ 50%
Citrulline BLOOD/BLOODSPOT +++ 16.67% - 0%
Adipic acid URINE ++ 14.29% - 0%
Leucine BLOOD/BLOODSPOT ++ 8.33% - 0%
Homovanillic acid URINE - 0% ++ 16.67%
Fumaric acid URINE - 0% ++ 16.67%
Anserine URINE ++ 100% - 0%
Valine BLOOD/BLOODSPOT ++ 8.33% - 0%
l-Threonine URINE ++ 50% - 0%
beta-Alanine URINE ++ 100% - 0%
(2S)-2-Hydroxy-2-(4-hydroxy-3-methoxyphenyl)acetic acid URINE - 0% ++ 33.33%
Orotic acid URINE ++ 14.29% - 0%
Dihomo-gamma-linolenic acid URINE - 0% ++ 100%
Carnosine URINE ++ 100% - 0%
L-Arabinose URINE ++ 33.33% - 0%
Arginine URINE - 0% ++ 50%
Lactic acid URINE ++ 16.67% - 0%
4-Hydroxybenzoic acid URINE ++ 14.29% - 0%
4-Methyl-2-oxopentanoic acid URINE ++ 14.29% - 0%
Suberic acid URINE ++ 14.29% - 0%
Oxalic acid URINE ++ 50% - 0%
Methylmalonic acid URINE ++ 14.29% - 0%
Phosphoserine URINE - 0% ++ 50%
Hydroxyproline BLOOD/BLOODSPOT ++ 25% - 0%
L-Homoarginine BLOOD/BLOODSPOT - 0% ++ 50%
Cystine BLOOD/BLOODSPOT - 0% ++ 20%
Acetoacetic acid URINE ++ 50% - 0%
L-Alloisoleucine BLOOD/BLOODSPOT ++ 25% - 0%
2-Aminobutyric acid URINE - 0% ++ 50%
L-Homocysteine URINE - 0% ++ 100%
1-Methyl-L-histidine BLOOD/BLOODSPOT ++ 50% - 0%
Methionine BLOOD/BLOODSPOT ++ 8.33% - 0%
1-Methyl-L-histidine URINE ++ 50% - 0%
2-Hydroxymethylglutarate URINE ++ 100% - 0%
3-Methyl-2-oxobutanoic acid URINE ++ 16.67% - 0%
Phenylacetic acid URINE ++ 33.33% - 0%
Sarcosine BLOOD/BLOODSPOT ++ 20% - 0%
Cholesterol BLOOD/BLOODSPOT ++ 100% - 0%
L-Pyroglutamic acid URINE - 0% ++ 16.67%
Pyruvic acid URINE ++ 20% - 0%
Ethanolamine BLOOD/BLOODSPOT - 0% ++ 33.33%
Succinic acid URINE - 0% ++ 14.29%
Kynurenic acid URINE ++ 16.67% - 0%
Isocitric acid URINE - 0% ++ 25%
2-Hydroxyisobutyric acid URINE - 0% - 0%
Benzoylformic acid URINE - 0% - 0%
2-Aminohexanedioic acid URINE - 0% - 0%
Carnosine BLOOD/BLOODSPOT - 0% - 0%
3-Methylcrotonylglycine URINE - 0% - 0%
Xanthurenic acid URINE - 0% - 0%
5-Hydroxyindole-3-acetic acid URINE - 0% - 0%
N-Isovaleroylglycine URINE - 0% - 0%
2-Oxoglutaric acid URINE - 0% - 0%
5-Hydroxylysine BLOOD/BLOODSPOT - 0% - 0%
Vanillactic acid URINE - 0% - 0%
Indole-3-acetic acid URINE - 0% - 0%
beta-Hydroxyisovaleric acid URINE - 0% - 0%
8-Hydroxy-2'-deoxyguanosine BLOOD/BLOODSPOT - 0% - 0%
Glyceric acid URINE - 0% - 0%
Benzoic acid URINE - 0% - 0%
Cadmium BLOOD/BLOODSPOT - 0% - 0%
Lead BLOOD/BLOODSPOT - 0% - 0%
(2R)-2-methyl-3-oxobutanoic acid URINE - 0% - 0%
D-Glucarate URINE - 0% - 0%
2-Hydroxyphenylacetic acid URINE - 0% - 0%
Glycolic acid URINE - 0% - 0%
beta-Alanine BLOOD/BLOODSPOT - 0% - 0%
Uracil URINE - 0% - 0%
2-(Butylamino)acetic acid URINE - 0% - 0%
3-Hydroxydecanedioic acid URINE - 0% - 0%
Arsenic BLOOD/BLOODSPOT - 0% - 0%
Glutathione BLOOD/BLOODSPOT - 0% - 0%
Glutamic acid URINE - 0% - 0%
Tiglylglycine URINE - 0% - 0%
2-Phenylpropionic acid URINE - 0% - 0%
Thymine URINE - 0% - 0%
L-Cysteine URINE - 0% - 0%
Serine URINE - 0% - 0%
Aconitic acid URINE - 0% - 0%
Sarcosine URINE - 0% - 0%
2-Aminobutyric acid BLOOD/BLOODSPOT - 0% - 0%
Alanine URINE - 0% - 0%
3-(3,4-Dihydroxyphenyl)propionic acid URINE - 0% - 0%
Sodium BLOOD/BLOODSPOT - 0% - 0%
Ethylmalonic acid URINE - 0% - 0%
DL-Asparagine BLOOD/BLOODSPOT - 0% - 0%
2-Aminoethyl dihydrogen phosphate BLOOD/BLOODSPOT - 0% - 0%
Phenylalanine URINE - 0% - 0%
Acetylcysteine URINE - 0% - 0%
Magnesium BLOOD/BLOODSPOT - 0% - 0%
Copper BLOOD/BLOODSPOT - 0% - 0%
Proline URINE - 0% - 0%
Cystathionine BLOOD/BLOODSPOT - 0% - 0%
Monoethyl phthalate URINE - 0% - 0%
3-Amino-2-methylpropanoic acid BLOOD/BLOODSPOT - 0% - 0%
Zinc BLOOD/BLOODSPOT - 0% - 0%
Sebacic acid URINE - 0% - 0%
(2R,3R)-2-hydroxy-3-methylpentanoic acid URINE - 0% - 0%
2,2-Dihydroxy-3-phenylpropanoic acid URINE - 0% - 0%
Glycine URINE - 0% - 0%
Anserine BLOOD/BLOODSPOT - 0% - 0%
Carboxycitric acid URINE - 0% - 0%
2,5-Furandicarboxylic acid URINE - 0% - 0%
2-Aminohexanedioic acid BLOOD/BLOODSPOT - 0% - 0%
Homogentisic acid URINE - 0% - 0%
Calcium BLOOD/BLOODSPOT - 0% - 0%
N-Propionylglycine URINE - 0% - 0%
4-Hydroxybutanoic acid URINE - 0% - 0%
Aminolevulinic acid BLOOD/BLOODSPOT - 0% - 0%
Cystathionine URINE - 0% - 0%
Sulfate URINE - 0% - 0%
Indican (plant indican) URINE - 0% - 0%
N-Acetyl-L-aspartic acid URINE - 0% - 0%
Manganese (II) ion BLOOD/BLOODSPOT - 0% - 0%
Asparagine URINE - 0% - 0%
DL-Homocystine BLOOD/BLOODSPOT - 0% - 0%
2-Methylcitric acid URINE - 0% - 0%
Taurine URINE - 0% - 0%
Meglutol URINE - 0% - 0%
gamma-Aminobutyric acid BLOOD/BLOODSPOT - 0% - 0%
Pantothenic acid URINE - 0% - 0%
gamma-Aminobutyric acid URINE - 0% - 0%
4-Pyridoxic acid URINE - 0% - 0%
Tartaric acid URINE - 0% - 0%
5-Hydroxymethyl-2-furancarboxylic acid URINE - 0% - 0%
Phosphoserine BLOOD/BLOODSPOT - 0% - 0%
Malonic acid URINE - 0% - 0%
Potassium BLOOD/BLOODSPOT - 0% - 0%
l-Isoleucine URINE - 0% - 0%
3-(3-Hydroxyphenyl)-3-hydroxypropanoic acid URINE - 0% - 0%
L-Ornithine URINE - 0% - 0%
Salicyluric acid URINE - 0% - 0%
Isobutyrylglycine URINE - 0% - 0%
Methylsuccinic acid URINE - 0% - 0%
Selenium BLOOD/BLOODSPOT - 0% - 0%
p-Cresol sulfate URINE - 0% - 0%
D-Arabinitol URINE - 0% - 0%
2-Aminoethyl dihydrogen phosphate URINE - 0% - 0%
4-Hydroxyhippuric acid URINE - 0% - 0%
3-Hydroxyisobutyric acid URINE - 0% - 0%
3-Methyl-L-histidine URINE - 0% - 0%
4-Hydroxyphenylpyruvic acid URINE - 0% - 0%
L-Argininosuccinic acid BLOOD/BLOODSPOT - 0% - 0%
Formiminoglutamic acid URINE - 0% - 0%
Citramalic acid URINE - 0% - 0%
3-Amino-2-methylpropanoic acid URINE - 0% - 0%
3-Hydroxypropionic acid URINE - 0% - 0%
Tryptophan URINE - 0% - 0%
3,4-Dihydroxyphenylacetic acid URINE - 0% - 0%
Linoleic acid URINE - 0% - 0%
3-Methyl-2-oxovaleric acid URINE - 0% - 0%
Vanilpyruvic acid URINE - 0% - 0%
Tyrosine URINE - 0% - 0%
Pimelic acid URINE - 0% - 0%
Mevalonic acid URINE - 0% - 0%
Phthalate URINE - 0% - 0%
Lysine URINE - 0% - 0%
p-Cresol URINE - 0% - 0%
Suberylglycine URINE - 0% - 0%
Methionine URINE - 0% - 0%
L-Homocysteine BLOOD/BLOODSPOT - 0% - 0%
Glutamine URINE - 0% - 0%
8-Hydroxy-2'-deoxyguanosine URINE - 0% - 0%
Sulfocysteine BLOOD/BLOODSPOT - 0% - 0%
Urea URINE - 0% - 0%
Tricarballylic acid URINE - 0% - 0%
Leucine URINE - 0% - 0%
Mandelic acid URINE - 0% - 0%
L-Homocitrulline BLOOD/BLOODSPOT - 0% - 0%
Malic acid URINE - 0% - 0%
2-Hydroxy-3-(4-hydroxyphenyl)propanoic acid URINE - 0% - 0%
Picolinate URINE - 0% - 0%
Hydantoin-5-propionic acid URINE - 0% - 0%
Hexanoylglycine URINE - 0% - 0%
4-Hydroxy-6-methyl-2-pyrone URINE - 0% - 0%
3,4-Dihydroxyphenylpyruvic acid URINE - 0% - 0%
L-Lactate URINE - 0% - 0%
Histidine URINE - 0% - 0%
3-Hydroxyglutaric acid URINE - 0% - 0%
Valine URINE - 0% - 0%
Cystine URINE - 0% - 0%
Methyl acetoacetate URINE - 0% - 0%
2-Hydroxyglutaric acid URINE - 0% - 0%
Citric acid URINE - 0% - 0%
2-Hydroxy-4-methylvaleric acid URINE - 0% - 0%
D-Lactic acid URINE - 0% - 0%
2-Oxoadipic acid URINE - 0% - 0%
7,10,13,16,19-Docosapentaenoic acid URINE - 0% - 0%
3-Methyl-L-histidine BLOOD/BLOODSPOT - 0% - 0%
Ethanolamine URINE - 0% - 0%
3-Oxopentanedioic acid URINE - 0% - 0%
Tin powder BLOOD/BLOODSPOT - 0% - 0%
Picolinate BLOOD/BLOODSPOT - 0% - 0%
Vanillylmandelic acid URINE - 0% - 0%
Coenzyme Q10 BLOOD/BLOODSPOT - 0% - 0%
2-Hydroxy-2-phenylpropanoic acid URINE - 0% - 0%
3-Methylglutaconic acid URINE - 0% - 0%
Phenylpyruvic acid URINE - 0% - 0%
3-Methylglutaric acid URINE - 0% - 0%
N-acetylglucosaminylasparagine BLOOD/BLOODSPOT - 0% - 0%
4,6-Dioxoheptanoic acid URINE - 0% - 0%
Phosphoric acid URINE - 0% - 0%
Mercury BLOOD/BLOODSPOT - 0% - 0%
N-Acetyl-L-leucine URINE - 0% - 0%
Glutaric acid URINE - 0% - 0%
2-Hydroxy-3-methylbutyric acid URINE - 0% - 0%
Aspartic acid URINE - 0% - 0%
Partners

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About Us

We are a nonprofit patient group with a lot of members who are struggling with IMBS themselves.

Wherever possible, we try to drive research on IMBS in general and we also try to support individual patients as much as possible.

Domain owner and responsible for the content: Danny Kunz

Address: Danny Kunz Heilbronnerstr. 16/2 71634 Ludwigsburg Germany

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