Dear John
Thank you this is very helpful. We recently had a
similar issue regarding the relevance of this.
Can I draw you out a little further on the more
general worthwhileness. Clearly the cases you cite
are rare extreme outliers in terms of the
phenomenon. It doesn't really address the question
on the general worthwhileness in the common garden
variety of CFS Gary mentions. If we did the test
on all of the 10,000 or so folk in Sheffield in
the sort of category Gary mentioned how many
actual diagnoses would we make where there would
be an identifiable mutation?
I write as someone who believes that many
patients with CFS have been let down so my
question is pragmatic - not an attempt to avoid
confronting the reality that we miss many
treatable diagnoses within this iceberg.
Aubrey
JML> Dear Dr Mascall,
JML> Ubiquinone or CoQ10 deficiency due either to
JML> Statins or PDSS1,2, prenylation, or CoQ2 gene
JML> mutations is real and not fringe (sic)
JML> medicine. Despite challenges of analysis
JML> CoQ10 the first description of a patient with
JML> a probable deficiency state occurred in 1986
JML> with the first fully assessed case being
JML> described in 1989. Since then an expanding
JML> range of clinical phenotypes have been
JML> described though the condition is rare.
JML> Currently four phenotypes are described
JML> though there are overlaps between them. The
JML> first is an encephalomyopathy with exercise
JML> intolerance, seizures and ataxia. Other
JML> presentations are with cerebellar atrophy and
JML> ataxia often presenting in childhood, Leigh
JML> syndrome with deafness a multi-system lethal
JML> disorder of infancy and finally a pure
JML> proximal myopathy of adult onset which can
JML> appear to be like CFS. In the case of the
JML> later presentation see, Horvath R,
JML> Schneiderat P, Schoser BG, et al., Coenzyme
JML> Q10 deficiency and isolated myopathy.
JML> Neurology. 2006; 66: 253-5. For a general
JML> review in adults Quinzii CM, Hirano M,
JML> Dimauro S. CoQ(10) deficiency diseases in
JML> adults.Mitochondrion. 2007 Jun;7 Suppl
JML> 1:S122-6. Epub 2007 Mar 27.
JML> We measure CoQ10 in isolated white cells,
JML> send 10 mls EDTA blood oovernight.Cost £109.
JML> If you do treat the formulation used is
JML> important and Q-gel is probably best from Tischon.
JML> I might agree that measuring ATP and the
JML> latter item you mention are fringe but the
JML> Spanish do use Allopurinol to increase tissue
JML> purines at least in children. See
JML> Castro-Gago M, Blanco-Barca MO,
JML> Novo-Rodriguez MI, Gomez-Lado C, Camina F,
JML> Eiris-Punal J, Rodriguez-Segade S.Treatment
JML> of mitochondrial encephalomyopathies with a
JML> xanthine oxidase inhibitor.
JML> Pediatr Neurol. 2006 Nov;35(5):318-22.
JML> Truist that this is helpful.
JML> .
JML> Dr John M. Land
JML> Clinical Lead Biochemical Medicine
JML> UCLH NHS Foundation Trust
JML> Neurometabolic Unit Box 105
JML> National Hospital
JML> Queen Square
JML> London WC1N 3BG
JML> 44-(0)20-7829-8768
JML> -----Original Message-----
JML> From: Clinical biochemistry discussion list
JML> [mailto:[log in to unmask]] On
JML> Behalf Of Gary Mascall
JML> Sent: 24 May 2007 14:47
JML> To: [log in to unmask]
JML> Subject: Chronic Fatigue Syndrome
JML> I have been asked by a GP with a patient who
JML> has CFS about the value of,
JML> the accuracy of, the following tests, and if
JML> they reflect what they are
JML> claimed to do.
JML> I can find no peer reviewed strong evidence
JML> for the usefulness of any of
JML> them, and wondered if there is a colleague
JML> out there with more knowlegde
JML> they are able to provide about these
JML> "fringe" tests. I have informed the
JML> GP of my reservations/concerns, so any
JML> useful information would be
JML> welcomed by us both.
JML> Coenzyme Q10
JML> ATP levels
JML> ADP to ATP conversion efficiency and ADP-ATP
JML> translocator cell-free DNA Niacin Superoxide dismutase
JML> Looking at the cost of getting these
JML> measured, £175, I can't see these
JML> being done regularly under the PbR
JML> incidative tariff for Clinical
JML> Biochemistry!
JML> Regards
JML> Gary Mascall
JML> Consultant in Clinical Biochemistry
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JML> ------ACB discussion List Information--------
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JML> community working in clinical biochemistry.
JML> Please note, archived messages are public and can be viewed
JML> via the internet. Views expressed are those of the individual and
JML> they are responsible for all message content.
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Regards
Aubrey Blumsohn
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