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Dynamics of the Gut Microbiota in
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Denver TMAU Test Lab survey click here
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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."

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Wednesday, February 20, 2013

Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Portugal

click for hypermethioninemia pubmed abstract
Methionine Adenosyltransferase I/III Deficiency

This deficiency is supposed to make the sufferer emit a methionine malodor due to hypermethioninemia

In this new paper from Portugal, it reports of a number of cases of Methionine Adenosyltransferase I/III Deficiency. From the abstract it reports of 12 cases detected from newborn screening who all carry just one (same) copy of a mutation. This is interesting because this makes the cases 'autosmosal dominant  (i.e. carriers can have the symptom(s) ). The blog has written previously about MAT I/III deficiency, and how it can emit a malodor reported to be similar to boiled cabbage (due to excess methionine). From the newborn screening program in Portugal, they estimate the prevalence a MAT I/III deficiency of 1/26000 (using their testing reference range).
Abstract :
Methionine adenosyltransferase deficiency (MAT I/III deficiency) is an inborn error of metabolism resulting in isolated hypermethioninemia, and usually inherited as an autosomal recessive trait, although a dominant form has been reported in several families.During the last 6 years, approximately 520,000 newborns were screened in the Portuguese Newborn Screening Laboratory by MS/MS, and 21 cases of persistent hypermethioninemia were found. One case was confirmed to be a deficiency of cystathionine β-synthase and 20 cases were confirmed by MAT1A gene analysis to have an elevation of methionine due to MAT I/III deficiency, which indicates an incidence for this condition of 1/26,000. Twelve of the MAT I/III deficient newborns, belonging to 11 families, were identified in the northern region of Portugal and sent to the same treatment center, where they are under follow-up. Clinical, biochemical, and genetic characteristics of individuals from these 11 families are presented. Plasma methionine and homocysteine concentrations were found to be moderately increased in all newborns, and molecular analysis revealed that they all were heterozygous for R264H mutation. Normal growth, development, and neurological examination were observed in all cases, and cerebral MRI performed in six cases revealed myelination abnormalities in one case. Plasma methionine concentration for all 12 cases was always below 300 μM, and they are all on a normal diet for their age.

Abstract : Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands
Reference links
Genetics home reference : hypermethioninemia : hypermethioninemia


Anonymous said...

Is it known if this is linked to fmo3 function???

Feb 25, 2013, 8:27:00 PM
blogcontributor2 said...

FMO3 oxidizes sulfides and amines of a certain structure, whereas MAT changes methionine to S-adenosylmethionine. So there is no obvious connection since they are 2 different enzymes. But maybe with methionine being blocked it may create strange sulfides that may use FMO3. However as far as I know there is no connection.

Feb 26, 2013, 5:56:00 AM
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