Memories of Old Video: CPT II Deficiency

Some of you may remember this video which was posted on here a long time ago. Some of you may have even just found it randomly on Youtube. The person in that video is me, and I have just been diagnosed with Carnitine Palmitoyltransferase II (CPT II) Deficiency. This disorder was diagnosed via a muscle biopsy. For those of you with fasciculations and pain, I would highly recommend that you ask your doctor about being tested for this. If anybody else receives this diagnosis let me know. I would bet a ton of money that at least one other person on this site has this disorder.
 
Hey steveI have been diagnosed with CPT type 2 the undiagnosed due to lack of myoglurbinia in my urine. My muscle biopsy pointed to cpt 2 also. Have you been tested for myoglurbinia?DD
 
I had never heard of Carnitine Palmitoyltransferase II Deficiency so thanks for the posting. It seems that you are probably correct in assuming that some other people at this forum have this deficiency as many of the symptoms are so close. And also similar in that both pnhe/bcfs and CPT can be triggered by a viral infection so the onset may seem to be the same to the victim. In looking it up on medical websites, CPT deficiency is supposedly in the domain of the metabolic doctor or nutritionist; how did you get your diagnosis - was it through one of these specialists? I don't think either is on my health plan, and would like to have at least the serum testing to rule it out because I do have a connection to more extreme exercise and symptoms. The medical web info only lists a few institutions that do the testing and I'm not in any of the metro areas or even states that run the tests connected with current research.It just is so amazing how many people are afflicted with similar symptoms and end up with different diagnoses: vitamin/mineral deficiencies, thyroid problems, Lyme disease, other autoimmune connections, anxiety disorders, and now this CPT. The human body is so complex.............Did you know that this posting went up so many times? That sometimes happens on this forum (especially if you try to edit or preview) so you need to go back and delete.Congratulations on a definitive diagnosis!!! An electrolyte containing beverage toast to you.
 
Thanks for the lead in on the health professionals. I asked my neuro if he thinks I should be tested and he said he'll get back to me. I figure he has all my results and can see if the test is necessary. So I'll see what he says and go with that for now. BTW how are you feeling now? What I read on CPT2 was a little conficting but most agree that you'd have to take supplements. Is this working for you? It would make a lot of us smile to hear you are twitch free.
 
I'm feeling pretty good overall. I've been changing my diet and that has helped. I have definitely seen improvements in my symptoms and decreases in muscle twitching.
 
How, exactly, did they find your problem to come up with your diagnosis? The word carnitine caught my eye. Most people I come into contact with have never heard that word whereas I know this word well. I have to take a carnitine supplement because my body is deficient in producing it. My doctor found this out because I was developing fatty liver (this was dx years ago). However, I started having muscle twitches about 5 months ago, from what you've learned could there be any correlation?
 

Users who are viewing this thread

Back
Top