mitochondrial myopathy

[ellenc]

Could you please give me a geberal idea of what kind of GI symptoms one might experience with mitochondrial problems? Also,are mitochondrial problems usually progressive and debilitating?
I  have been having what I can only describes as stomach " lurches" when I lie down i the night for sleep. PLus, numbness, tingling and Raynauds type symptoms in my extremeties, but all clear MRI's, EMg, blood work etc.
Also, how is mitochondrial myopathy DX'ed?

Thank you.

[CCF Neuro[P] MD, RPS]

Dear Camille S:

Sorry to hear about your symptoms.  Whether you have a mitochondrial cytopathy is questionable.  We usually see an increase in lactic acid, or an abnormal urine organic acid (often 2-glutaric acid increases) and/or abnormal serum amino acid levels (alanine to lysine ratio in usually increased).  As all of your studies have been normal, I would put a mitochondrial cytopathy lower on the list of possibilities.  What we usually see in mitochondrial cytopathy driven GI problems is pseudo-obstruction, diarrhea, or constipation.  These can be seen isolated or in phases between the various symptoms.  

We usually diagnosis a mitochondrial cytopathy by serum lactate, pyruvate, amino acids, carnitine and acyl carnitine; and urine organic acids, amino acids, carnitine and acyl carnitine.  If these are positive, then we would do a muscle biopsy hoping to see an abnormal mitochondrial electron transport chain defect.

I hope this helps you.

Sincerely,

CCF Neuro MD

[robert brock]

I used to know a camille s.