hypermethioninemia test

anything unrelated to tmau

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hypermethioninemia test

Postby PoetFire » Fri Mar 08, 2013 8:00 pm

As well as TMAU, another documented metabolic malodour condition is caused by hypermethioninemia. The isolated form of this is said to be caused by MAT I/III deficiency.

The test for this should be available from most metabolic labs via the amino acids test but I know that Sheffield Children's Hospital offer it on it's own for £30. Just mentioning it in case anyone wants to test for it.

The test tube needs to be lithium heparin or heparin and they prefer the plasma but I think they accept whole blood ? (not sure). You would need to get someone qualified to sanction the test via a form (e.g. GP) and need to pay for the test. You can't just send a sample in with no permission form from a qualified person.

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Details from the lab are : (probably easiest to send it as #2)

The sample tube should be 'Lithium Heparin' or 'Heparin'.

1. For sending plasma:
lithium heparin plasma (2 -5 mls whole blood is spun by centrifuge and 1-2 ml of the plasma layer (ie the clear upper layer) carefully pipetted into a tube for transportation by courier.
Plasma samples can be stored frozen if necessary prior to dispatch.

2. For sending the lithium heparin / heparin whole blood (2-5mls):
- avoid freezing the sample. Sample should arrive within 48 hours to avoid sample deterioration.

GPs should have the necessary tubes (they are commonly used) and should have no problem - but are unlikely to be able to prepare plasma by spinning whole blood.

(I give the plasma option as it is more robust for transit. The actual analysis is always done on plasma).
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I guess you would send the sample to (I think. Please check) Remember to pay the £30 too.

Nigel Manning
Principal Clinical Scientist
Dept. Clinical Chemistry
Sheffield Children's Hospital
Sheffield S10 2TH

Any questions about it probably best to contact Nigel Manning

http://www.ncbi.nlm.nih.gov/pubmed/2781618
http://www.ncbi.nlm.nih.gov/pubmed/3812486

Payment :
you can send a cheque with the sample to 'Sheffield Children's NHS Foundation Trust'
or they will invoice the clinician (i.e. you pay the clinician and they give it to the lab)
PoetFire
 
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Re: hypermethioninemia test

Postby bcto1ma » Fri May 24, 2013 8:03 pm

Thank you very mutch i will try do that test.
Iam already have do 4 Tmau Test and all comes negative, i dont know whats wrong witch me, some people and frends have say i smell like urine, others like fish other amonia have one girl say iam smell like insecticide.
Ufff it seems that the doctors know nothing, next week I will take fecal test but am not with great expectations.

Thank you again brother.
bcto1ma
 
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