metabolic disorder -nureoreceptors

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donnajane

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metabolic disorder -nureoreceptors/transmitters

Hi,
Does anyone have any info or a good site for info on metabolic disorders-nureoreceptors/transmitters. We saw Paed today and she listed all of his strange symptoms and she said it could be something to do with his nureoreceptors as it all fits. I have never seen her like this her brain was fitting the jigsaw puzzle together. She is going to speak to the team in the metabolic unit at the Childrens Hospital and also write a letter to his Nureologist to see if this is something he has considered.
She said it would explain why although everyone "knows" he is having seizures why they are not picked up on EEG etc.
This may turn out not to be the case but it was nice to have one of his medical team finnally say I think this is what it could be.
Any info anyone has would be greatly appreciated.
Donnajane.
 
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It sounds like your pediatrician suspects that your son has what's called an Inherited or Inborn Metabolic Disorder, and that that is what is causing his seizures and related symptoms. Symptoms of a metabolic disorder can include things like developmental delays, birth defects, seizures, abnormal movements, growth problems, etc.

There are many different seizure-related Metabolic Disorders: You can see a list here: http://professionals.epilepsy.com/page/table_metadis_infansz.html A first step would be testing to see what particular one might be involved. Diagnostic tests can include MRI, MRS (magnetic resonance spectroscopy), spinal tap, and electromyography, but with your little guy they might want do less invasive tests first involving vision, hearing, heart and liver function, maybe a skin biopsy.

Because there are so many types of metabolic disorders, treatments also vary considerably. They can involve anything from dietary restrictions, to certain vitamins or other therapies to medication or surgery.

You might want to check with his pediatrician to see what tests she would recommend. I hope she can move things along in terms of diagnosis and treatment for your son.
 
Thankyou so much for the post. The Paed said they may wish to test via a lumbar puncture, pretty invasive I think due to his age. He has EEG next week, his 5th since last Sept, and his MRI has been moved to July 20th. I will be interested to see what his Nureo says re her questioning if it could be Nureotransmitter issue when we see him next Thursday after EEG.

Thanks again.
Donnjane
 
The neurotransmitter issue is a bit confusing, since ALL seizures involve problems with neurotransmitters. When you have a seizure the excitatory neurotransmitters go into overdrive, while the inhibitory neurotransmitters fall down on the job.
 
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