RE: adult mito/meta doctors/Barbara

[Guest guest]

You're welcome.

If anyone is interested, here are the lab requirements re patient history

from Guthrie Biochemical Genetics Laboratory site:

Physicians and Healthcare Providers: The complexity of testing for

individual metabolic disorders often results in partial defects or combined

defects that are difficult to interpret diagnostically. It is essential for

us to have all possible sources of supportive data to contribute to the

final analysis of our findings. Therefore, we require the inclusion of a

clinical summary and any relevant laboratory data for both children and

adult patients such as plasma lactate, ammonia, and creatine kinase and in

some cases plasma amino acids and urine organic acids. The results of an

ischemic exercise test and EMG report are helpful in evaluating metabolic

myopathies. In cases where a skeletal or cardiac muscle or liver biopsy has

been taken, we require a histopathology report and when performed, an

electron microscopy report. All specimens sent to the laboratory must

include the appropriate http://www.rgbgl.org/forms/forms.htm> test request

forms completed and signed by an ordering physician. Any specimens that

arrive in the laboratory without the above required information and

completed forms will be placed on " hold " until receipt of the complete

information.

Re statins, there is a new study-not yet published-of 100+ muscle biopsies

from patients with statin myopathy that I think you would find very

interesting. I have seen a pre-pub copy but cannot share findings until

publication which should be later this year. Will post more when I can.

Barbara

_____

From: gillianstumps

Sent: Wednesday, April 13, 2005 7:16 AM

To:

Subject: Re: adult mito/meta doctors/Barbara

Thank you very much Barbara for your reply...It is all just so

complicated, I have no doubt whatsoever that my biopsy shows a

problem...

the reason I asked about medications was that on about.com thyroid

sites they had some pubmed stuff which shows that Hashimotos also

causes respiratory chain trouble.. I caused consternation when

I said that I had a mitochondrial cytopathy on there ...there was

much googling on the subject by many..some 'think' it may be there

underlying problem as well...I did give the UMDF site and many then

went on from there ..this all arose as they were talking/ posting on

the incidence of haemochromatosis in the US and I said that was also

in my family as well as thyroid but I actually was diagnosed as a

mito/cyto,

I do appreciate all the information that you have accumalated and

are willing to share think I would like to direct Doctors

here as well as the breadth of understanding by the non-medically

trained people is so great..

Gillian

> > > > > >

> > > > > > Kim,

> > > > > > Hi! Where about are you in Illinois? I am in

> Cedar

> > > > Rapids,

> > > > > > Iowa, but have family spread throughout Iowa and

Illinois,

> > > plus

> > > > a few

> > > > > > other states. Dr. Peltier up in Milwaukee, does work

with

> > > adult

> > > > mito

> > > > > > patients. There are a few on this list that have seen

> her,

> > but

> > > > > > experiences have been different for each one. You can e-

> mail

> > > me

> > > > off list

> > > > > > if you have any questions about her.

> > > > > >

> > > > > > Smiles,

> > > > > > a

> > > > > >

> > > > > > On Mon, 11 Apr 2005 21:40:45 -0000 " klaga5 "

> > > writes:

> > > > > >

> > > > > > I'm in Illinois.

> > > > > > Kim

> > > > > > --- In , Laurie Fitzgerald

> > > > > >

> > > > > >