Late Onset Fatty Acid Oxidation
Posted , 2 users are following.
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
2 likes, 5 replies
scott6672
Posted
Small Fiber Neuropathy
Muscle atrophy in several areas
Accumulation of glycogen in rare muscle fiber
Elevated adolase for several years
Normal glucose
OntarioDude scott6672
Posted
scott6672 OntarioDude
Posted
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.
OntarioDude scott6672
Posted
for MS...
scott6672
Posted
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??