Re: CoQ10 deficiency

[Guest guest]

Allesia

My daughter has a COQ10 deficiency also. It was diagnosed on a muscle

biopsy. My daughter is now 6 and has been symptomatic with mito since birth.

Her biopsy was done at 6 months of age. Unfortunately with she has

a lot of brain abnormalities that happened in utero, probably from not enough

energy to form brain properly. Primarily she has agenesis corpus callosum.

She is nonverbal, nonambulatory, GT, profound MR. But, COQ 10 did help her.

Before we started it she could only lay on her belly and hold her head up and

it was like she was blind.

Now she gets to a sitting position independently and has very functional

vision.......

Good luck to you. COQ10 deficiency are not real common that I can find. I

only know of one other child and unfortunately she died at one year of age.

There are some articles about older persons being diagnosed and did VERY well

after COQ10 was started.

Janelle McGuire

Mom to and

Burlington, Iowa

[Guest guest]

Allesia

My daughter has a COQ10 deficiency also. It was diagnosed on a muscle

biopsy. My daughter is now 6 and has been symptomatic with mito since birth.

Her biopsy was done at 6 months of age. Unfortunately with she has

a lot of brain abnormalities that happened in utero, probably from not enough

energy to form brain properly. Primarily she has agenesis corpus callosum.

She is nonverbal, nonambulatory, GT, profound MR. But, COQ 10 did help her.

Before we started it she could only lay on her belly and hold her head up and

it was like she was blind.

Now she gets to a sitting position independently and has very functional

vision.......

Good luck to you. COQ10 deficiency are not real common that I can find. I

only know of one other child and unfortunately she died at one year of age.

There are some articles about older persons being diagnosed and did VERY well

after COQ10 was started.

Janelle McGuire

Mom to and

Burlington, Iowa

[Guest guest]

Allesia

My daughter has a COQ10 deficiency also. It was diagnosed on a muscle

biopsy. My daughter is now 6 and has been symptomatic with mito since birth.

Her biopsy was done at 6 months of age. Unfortunately with she has

a lot of brain abnormalities that happened in utero, probably from not enough

energy to form brain properly. Primarily she has agenesis corpus callosum.

She is nonverbal, nonambulatory, GT, profound MR. But, COQ 10 did help her.

Before we started it she could only lay on her belly and hold her head up and

it was like she was blind.

Now she gets to a sitting position independently and has very functional

vision.......

Good luck to you. COQ10 deficiency are not real common that I can find. I

only know of one other child and unfortunately she died at one year of age.

There are some articles about older persons being diagnosed and did VERY well

after COQ10 was started.

Janelle McGuire

Mom to and

Burlington, Iowa

[Guest guest]

How is CoQ10 level tested? Obviously by blood/serum, but can most regional

children's hospitals run the test properly, or are there specific reference

labs where it needs to be sent? While the boys have been diagnosed with

metabolic, but not specifically mito at this point, I would want to see a

decreased CoQ10 level before trying supplementation. (The metabolic/genetics

doc has offered for them to try a trial of it, but with our situation of the

past year, I would feel more comfortable with it being documented first that

they were deficient.)

Another question-is it like carnitine testing, that the child can be

deficient in tissues, muscles, but test normal in serum/blood?

Thanks!

Dena

[Guest guest]

the 3 of my 4 kids who have had levels done all have low total coQ levels.

The boys are especially struggling. Even with supplementation they have low

total, very low reduced levels (good coQ) and very high oxidized levels (bad

= too much oxidative stress). It's baffling. Could be due to poor

absorption though we think that is not the whole story given they absorb

other meds just fine. they actually had normal levels once upon a time on

lower doses of CoQ. Probably the low reduced , low total and high oxidized

levels are due to excess utilization and too much oxidative stress.

Right now we are trying to give it every 6 hours around the clock to see if

it makes a difference.

From what I have read there can often be a wonderful and profound response

to CoQ if it is the primary problem. (Not always of course). In our case a

defect in complex 1 and 4 is the primary problem and coQ deficiency is

simply secondary so their response to CoQ has always been questionable.

Anne

[Guest guest]

It can be tested in blood and muscle.

WE do fairly frequent blood measurements - baseline and then to assess a

particular dose or dose schedule as well as levels when ill (as long s they

get ill Mon through Thursday since it can't go out any other day !).

Most Children's Hospitals can not do it. We send ours to Dr. Mike Miles, A

Pharm D at

Cincinnati Children's Hospital. Once upon a time I saw an email he wrote to

another list and when we started thinking about getting levels I was glad I

had saved it. I gave it to one of the PhD guys at our lab and he called out

there and got the information for how to send it. (I can attach that email

to the bottom of this if you'd like).

I like sending it there because:

1.They do total levels and oxidized and reduced levels. This is crucial

because normal levels are not as good as one would think if the oxidized CoQ

is high (=oxidative stress). Nothing is purely an antioxidant, including

CoQ10. That is a myth. Everything has redox potential and I want to know

when I am giving enough CoQ for it to be an antioxidant and when I am giving

too much so that it has become a pro-oxidant.

2. They norm it for the patient's cholesterol level since the CoQ being

measured is bound to cholesterol.

3. They turn it around and fax a report to the MD in about 7-10 days. Dr.

Miles writes an interpretation for us and now that my kids have had so many

levels sent, he made a nice chart for them that shows what the trends are

over time as related to the dose of CoQ they are on. Our MD asked him to fax

directly to me as well as to himself and Dr. Miles does this which I

appreciate.

4. While I have never spoken to him on the phone, our MD has called him

numerous times and he seems always happy to help and advise and give

whatever information he has to offer. He gives us targets to shoot for with

blood levels and just in general has been interested in what our MD and I

are trying to do with the kids.

We did ask him if the tissue CoQ levels were different than the blood CoQ

levels and he said that they are currently working on the answer to this.

They seem to do a lot of small clinical trials over there, trying to figure

out what the normal variation is, how it is best absorbed and what happens

when someone is sick. I think they also did some of the trials for the CoQ

gel product that Tischon makes. They do know that levels get very depleted

in the ICU patient (stressful illness) whether or not they have a Mito

disease. This is the kind of stuff that Parsons was talking about -

it will further research to help our children with Mito if we can link to

something that occurs in a bigger population (ICU population being much

larger than the Mito population).

He is the one who told us that there may be a dose related limit to how much

CoQ can be absorbed at one time. Since it is absorbed so slowly (5-10 hrs

after ingestion) we are now breaking down the daily dose into smaller

increments to see if they can obtain better levels that way. I think that

he and his colleagues are going to end up teaching us a lot about CoQ. I

know that our MD and I have learned alot since we started sending the kids

blood out there.

Anne

___________________________

CHMC CLINICAL LABORATORY OFFERS NEW TESTING FOR COENZYME Q10

The neuropharmacology and Clinical Laboratories of the Children's Hospital

Medical Center in Cincinnati have recently joined to develop and offer a new

test profile for assessing coenzyme Q10 status. This unique profile

includes the concentrations of total, oxidized, and reduced forms of this

essential cofactor, plus the total Q10 concentration indexed with total

cholesterol.

Coenzyme Q10 (also called CoQ or ubiquinone) is an endogenous cofactor which

is essential for mitochondrial function and cellular energy production. It

also serves as an important antioxidant, protecting membranes from oxidative

injury, and conserving and regenerating vitamin E. A new method for

measuring the reduced (or antioxidant) and oxidized forms of coenzyme Q10

has been developed in the CHMC neuropharmacology laboratory (see Clinical

Chemistry 2001;47(2)256-265). Because coenzyme Q10 may be depleted in

certain acute and chronic disease states, the ratio of reduced to total Q10

concentration is also a useful biomarker of oxidative stress. Patients who

have coenzyme Q10 deficiency also have increased risk of mitochondrial and

cellular injury from excess production of free radicals. Certain drugs and

malnourished states may also tend to deplete the body's coenzyme Q10

reserves. Measurement of coenzyme Q10 concentrations in plasma can assist

clinicians in detecting coenzyme Q10 deficiency states, and serve as a guide

for dosing when oral supplementation is indicated. Because significant

inter-product variability in the absorption and bioavailability of coenzyme

Q10 has been reported with over-the-counter (OTC) Q10 preparations, the

Coenzyme Q10 Profile will also assist in verifying the extent of absorption

of Q10 from those products.

Included in the Coenzyme Q10 Profile are the oxidized, reduced, and total

Q10 concentrations. Also the fraction of the reduced Q10 in the total

concentration, and the Q10:Total Cholesterol Index (or QCI) are reported.

Reference intervals and comments are also provided with each report.

Potential indications for testing coenzyme Q10 status include:

· Suspected coenzyme Q10 deficiency secondary to inheritance (rare) or other

mitochondrial disease

· Cardiomyopathy

· Neurodegenerative diseases, e.g. Parkinson's, Alzheimer's, muscular

dystrophy, ALS

· Metabolic disease

· Malnutrition

· Presurgical screening for patients who have pre-existing coenzyme Q10

deficiency or who may have increased risk of ischemia-reperfusion injury

· Prior treatment with HMG-CoA reductase inhibitors ( " statin " drugs) or

other drugs which may lower coenzyme Q10 levels

· Gastrointestinal malabsorption

· Assessment of coenzyme Q10 dosing adequacy

The Coenzyme Q10 Profile requires a minimum of 2 mL of heparinized blood

(green top vacutainer tube), which must be placed on ice immediately and

sent to the CHMC Clinical Laboratory for next morning delivery. Please call

the CHMC Clinical Laboratory Outreach Director at in advance

for billing, ordering, shipping, and specimen collection information.

Re: CoQ10 deficiency

> How is CoQ10 level tested? Obviously by blood/serum, but can most

regional

> children's hospitals run the test properly, or are there specific

reference

> labs where it needs to be sent? While the boys have been diagnosed with

> metabolic, but not specifically mito at this point, I would want to see a

> decreased CoQ10 level before trying supplementation. (The

metabolic/genetics

> doc has offered for them to try a trial of it, but with our situation of

the

> past year, I would feel more comfortable with it being documented first

that

> they were deficient.)

>

> Another question-is it like carnitine testing, that the child can be

> deficient in tissues, muscles, but test normal in serum/blood?

>

> Thanks!

> Dena

>

>

> Please contact mito-owner with any problems or questions.

>

>

[Guest guest]

Anne,

Thanks for your explanation on the deficiency and testing. My daughter has had a general diagnosis of mito for years but everything has always been normal in her testing of the known mito disorders. Her neuro has now requested another muscle biopsy and thinks a CoQ10 deficiency is a possibility, based on her symptoms. I appreciate the explanation on the various states of blood testing (normal plasma levels, oxidized levels, etc.). We are hoping this may be the definitive diagnosis we are looking for so that we can find some kind of possible treatment to at least slow down the progression. The neuro has told us that if this is the case than she would be put on mega doses of CoQ10. What kind of doses is your child on? Sorry if I am asking about something you have already mentioned but I have come into this thread of conversation a little late.

Take care

[Guest guest]

Alessia,

Jill's symptoms are ataxia, developmenatal delay, Retinitis Pigmentosa, poor circulation in her feet and hands and mild hearing loss due to poor auditory processing. Jill's doc said that as with other mito disorders, the symptoms can vary but I think because Jill's symptoms are neurological in nature she is looking in this direction. Jill is going to have a second muscle biopsy in a few months.

RE: Re: CoQ10 deficiency

,

You mentioned your neuro suspected CoQ10 deficiency based on your daughter's symptoms--

would you mind explaining what those are? I ask because my daughter apparently has a

deficiency, and I'm curious if their symptoms are similar.

Thanks,

Alessia CoweePlease contact mito-owner with any problems or questions.

[Guest guest]

Alessia,

Jill's symptoms are ataxia, developmenatal delay, Retinitis Pigmentosa, poor circulation in her feet and hands and mild hearing loss due to poor auditory processing. Jill's doc said that as with other mito disorders, the symptoms can vary but I think because Jill's symptoms are neurological in nature she is looking in this direction. Jill is going to have a second muscle biopsy in a few months.

RE: Re: CoQ10 deficiency

,

You mentioned your neuro suspected CoQ10 deficiency based on your daughter's symptoms--

would you mind explaining what those are? I ask because my daughter apparently has a

deficiency, and I'm curious if their symptoms are similar.

Thanks,

Alessia CoweePlease contact mito-owner with any problems or questions.

[Guest guest]

Alessia,

The first sample was normal for quite a few different mito mutations. All of Jill's tests have always been normal with the exception of evoke potential and MRI in recent years. All bloodwork, skin and muscle biopsies have been normal.

RE: Re: CoQ10 deficiency

May I ask what the first

muscle biopsy indicated? You mentioned going for a second...

Please contact mito-owner with any problems or questions.