Re: Re: Low Creatinine - Now HIGH Creatinine Question

[Guest guest]

Low (and high) creatinine levels are a common finding in children with mitochondrial disease. These children also generally have low muscle mass and low tone.

I have been told by our geneticist that children with seizures can also have low creatinine levels, so this may be why you were told to increase l-carnosine (which can be helpful in some children with seizures).

Dr. Haas, from CA, said that very elevated creatinine is as good a biochemical marker for mitochondrial disease as elevated alanine/lysine at the 2010 UMDF conference in AZ in June. I have been trying to get a copy of his lecture slides, if I do, I will forward them to you Ellie. Or you might consider seeking out Dr. Haas to ask that very question. He is a highly regarded doctor who is investigating the link between mitochondrial disease and ASD.

Here is Dr. Haas's bio:

http://neurosciences.ucsd.edu/biosx.php?pageid=RHaas

And here is a project he was working on with Autism Speaks:

Autism Speaks thanks the following supporters of our High Risk High Impact Projects:The Emch Foundation Emch and Merope PavlidesDoug Wallace, Ph.D., UC Irvine Haas, M.D., UC San DiegoBeatrice Golomb, M.D., Ph.D., UC San Diego$690,460 for 1 yearMitochondrial Etiology of AutismThe investigators propose to test the hypothesis that defects in mitochondrial function may be an important factor in ASD pathophysiology. Physiological and biochemical evidence of mitochondrial dysfunction will be directly assessed by collecting skeletal muscle, assaying for mitochondrial function and quantifying oxidative stress. Subjects will be further evaluated for mitochondrial dysfunction using five non-invasive

techniques, which have the potential to supplant the muscle biopsy in diagnosis of mitochondrial dysfunction. These non-invasive tests include analysis of alterations in metabolite levels in urine and blood (metabolomics), determination of changes in brain and muscle high energy phosphates by magnetic resonance spectroscopy (MRS), determination or patient exercise capacity and resulting alterations in hormone levels, analysis of exhaled organic molecules, and analysis of changes in mitochondrial status by transdermal near infrared light absorbance. To determine if alterations in mitochondrial genes contribute to the development of ASD, the investigators will screen subjects for alterations in mitochondrial genes that are located in chromosomal regions previously implicated in autism. Analyses will also include mtDNA copy number and changes in the mtDNA sequence that may correlate with disease. What this means for people with

autism:Demonstration that individuals with ASD have mitochondrial defects could provide important insights into both regressive and progressive aspects of the clinical course of ASD in children and adults. In sum, this research program is in position to develop novel methods for diagnosis of metabolic abnormalities and offer immediate treatment approaches.

Supplementing creatine monohydrate has been EXTREMELY helpful to my children. We have a geneticist who is helping monitor AST/ALT (liver and kidney function) but our DAN!/biochemical physician is now using creatine monohydrate in many other patients and seeing very positive developmental gains.

Levo-carnitine (prescription carnitine- not OTC/supplement) has also been extremely helpful to my children … but they ALSO needed creatine monohydrate to catch up developmentally. One alone, would not have been an appropriate “cocktailâ€. They needed both to help them catch up.

Talk to your doctor about these two products.

Over the counter creatine monohydrate products can be toxic to children. These are the two recommended creatine monohydrate products by the top mitochondrial experts. Both of these are pure "pharmaceutical grade " creatine monohydrate.

Cytotine by Solace Nutrition (my younger son takes this)

http://www.solacenutrition.com/products/cytotine/cytotine.html

Neotine (my older son takes this)

http://www.neotine.com/

Happy to help, if anyone has specific questions,

Alyssa, mom to Nick and Nate- dx’d mitochondrial oxidative phosphorylation, known as OXPHOS, a new category of ASD, and a disorder of energy production. The same DX as Hannah Poling

If anyone is interested in more information on OXPHOS/Autism secondary to Mitochondrial Disease I have written an article that was published in the recent issue of The Autism File magazine (issue 36). The magazine is available at Borders. It discusses screening labs, symptoms, suggestive lab work and precautions to take with this sub-group of ASD children.

Improved health to all the children.

Subject: Re: Low Creatinine - Now HIGH Creatinine QuestionTo: mb12 valtrex Date: Friday, July 30, 2010, 8:47 PM

My son's urine test came back with a VERY high level reported but when I asked about it, our doc said not to worry as that only represents how concentrated the sample was. I probed as I was concerned that it was a kidney issue marker and she said no.Is that what you all would agree with?