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March20 podcast Dr Hazen
anti-TMA pill in a year or 2 ? (scroll 12 mins)

Additional info:
MEBO Karen
at UK Findacure conf 2020

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MEBO Map Testing & Meetups

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MEBO - UBIOME study 2018



MEBO Gut Microbiome Study
"Microbial Basis of Systemic Malodor and PATM Conditions (PATM)"
Funded by uBiome Research Grant

"Microbial Basis of Systemic Malodor and PATM Conditions (PATM)"

Dynamics of the Gut Microbiota in
Idiopathic Malodor Production

Started May 2018 - Ongoing

Current people sent kits : 100/100
3 kits per person


Participation info : LINK English

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BO Sufferers Podcasts



TMAU Petition world
TMAU UK end total:262
TMAU UK ends 23/01/20
TMAU Petition USA end total 204
USA : Moveon open
TMAU (Dominican)
Metabolomic Profiling Study

Start : Aug 2016
Stage 1 : 27 Canadian volunteers to test
Latest click here (26 oct) :
17 samples returned

Note : Stage 1 is Canada only.
Return cut-off date : passed
Analysis can take 6/8 weeks
Analysis start in/before Nov
MEBO Research is a
NORD Member Organization
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Denver TMAU Test Lab survey click here
click to Read more/less

USA survey for anyone who wants to improve Denver TMAU test

begun : Dec22
end : no ending for now

A trainee genetic counselor is working at the Denver TMAU test lab. Probably as part of her training. As a project she wishes feedback on any aspect of the Denver TMAU test and process. You can fill in the survey and/or email her (email address is in survey). It's meant for USA people, but perhaps others can give their view too (as we have so few opportunities).

quote from her rareconnect post

"Hello all! I wanted to make you aware of a research study being conducted to better understand the experience and needs of individuals with trimethylaminuria with a goal of being able to create improved patient and healthcare provider education materials. Any participation is completely voluntary and all responses remain confidential. Feel free to use the contact information within the link with any questions or share the survey with others with TMAU."

see this post for more details

Wednesday, February 4, 2009

2006 paper on Isovaleric Acidemia : 'sweaty feet syndrome'

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity

Vockley J, Ensenauer R
Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh

Note: This editorial is the writers opinionin the murky world of metabolic body odor and halitosis, you have to wonder if in reality this means they will have no problems except with transient 'sweaty feet odor' that never seems to be around when a doctor is present

This is an interesting paper because the 'rules' for isovaleric acidemia were rigidly set (2 kinds: both serious and obvious) until a blood check of a sample normal population (neonatal babies) was taken and there was found to be a 3rd group who the researchers deemed to be, so far, 'asymptomatic' (without problems). However, in the murky world of metabolic body odor and halitosis, you have to wonder if in reality this means they will have no problems except with transient 'sweaty feet odor' that never seems to be around when a doctor is present. You have to wonder if the same may be true if a 'spot-check' of blood/DNA was taken amongst a sample normal population for any form of metabolic body odor and/or halitosis, depending on whatever enzymes or compounds are involved, including the possibly most common; fecal body odor.

Also, of interest is the use of the word 'heterogeneity'. Presumably they mean the mild cases in the study had 2 known mutants or variants of different type, rather than 2 mutants of the same type (autosomal recessive ?). It looks as if this is similar as to how the loosening of the genetic rule on trimethylaminuria may go, still taught as autosomal recessive, although testers seem to be going towards it being heterogenous ... and possibly both health problems will turn out autosomal dominant for 'mild' cases (if you think transient smelling is mild).
...Initially, two phenotypes with either an acute neonatal or a chronic intermittent presentation were described. More recently, a third group of individuals with mild biochemical abnormalities who can be asymptomatic have been identified through newborn screening of blood spots by tandem mass spectrometry. IVD is a flavoenzyme that catalyzes the conversion of isovaleryl-CoA to 3-methylcrotonyl-CoA and transfers electrons to the electron transfer flavoprotein. Human IVD has been purified from tissue and recombinant sources and its biochemical and physical properties have been extensively studied. Molecular analysis of the IVD gene from patients with IVA has allowed characterization of different types of mutations in this gene. One missense mutation, 932C>T (A282V), is particularly common in patients identified through newborn screening with mild metabolite elevations and who have remained asymptomatic to date. This mutation leads to a partially active enzyme with altered catalytic properties; however, its effects on clinical outcome and the necessity of therapy are still unknown. A better understanding of the heterogeneity of this disease and the relevance of genotype/phenotype correlations to clinical management of patients are among the challenges remaining in the study of this disorder in the coming years.

REFERENCE: National Center for Biotechnology Information (NCBI) at the U.S. Library of Medicine (NLM)

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