Late Onset Fatty Acid Oxidation

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Blood work up:

low adipic acid

zero N-AcetylAspartic Acid

high OH-dodecenoylcarnitine

high Glutarylcarnitine

Muscle fasciculations throughout entire body: arms, legs, stomach, chest, left eye.  Extremely low endurance. ie:  Lift arms straight up and after 30 sec. they start to shake.  prolonged sitting or standing effects neck/shoulder muscles with pain. 

Earlier stage used to be just muscle pain upon exertion

 

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5 Replies

  • Posted

    Now pain can occur without any exertion, or very little, ie: chest muscles are sore upon awakening.

    Small Fiber Neuropathy

    Muscle atrophy in several areas

    Accumulation of glycogen in rare muscle fiber

    Elevated adolase for several years

    Normal glucose

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    • Posted

      Must be a relief to find out what it is. What kind of doctor diognosed you? Having normal sugar level and a late onset, not too many doctors would probably choose to go that route...
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    • Posted

      It is in that family of disorders, of which there are quite a few.

      The one acid I have none of can cause neuron death.

      We're not quite there at a final diagnosis and my Dr is trying to set me up for genetic testing and referring me to their neurologist.

      I am working with a Genetic Pathologist at The Cleveland Clinic.

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    • Posted

      Good stuff, good luck with your diognosis. I don't really have anything to help out since I don't know anything about fatty acid oxidation disroders, all I can say is that I have a lot of similar symptoms and I'm waiting for an EMG to rule out ALS and beyond that no idea since MRI came back clean

      for MS...

       

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  • Posted

    That one acid that is zero, is an important clue:

    N-Acetylaspartic acid, or N-acetylaspartate (NAA), is a derivative of aspartic acid with a formula of C6H9NO5 and a molecular weight of 175.139.

    NAA is the second-most-concentrated molecule in the brain after the amino acid glutamate. It is detected in the adult brain in neurons,[2] oligodendrocytes, and myelin[3] and is synthesized in the mitochondria from the amino acid aspartic acid and acetyl-coenzyme A.[4] The various functions served by NAA are still under investigation, but the primary proposed functions include its being:

    A neuronal osmolyte that is involved in fluid balance in the brain

    A source of acetate for lipid and myelin synthesis in oligodendrocytes, the glial cells that myelinate neuronal axons

    A precursor for the synthesis of the important neuronal dipeptide N-Acetylaspartylglutamate

    A contributor to energy production from the amino acid glutamate in neuronal mitochondria.

    There was a study done on mice or rats where they fed the mitochondria a toxicity that lead to a marked decrease of this acid.  At the worse stage it caused neuron death but was reversible when they stopped the mitochondria toxicity.

    The very last part of the description is where I most noticed the effects in that although I have muscle bulk, when those muscles are very minorly stressed the result is pain.  

    My question to my geneticist or the next neurologist is how can we determine if neurons are damaged and if so to what extent and can any damage be reversible??

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