CPT 2 Deficiency: Question about symptoms

Posted , 3 users are following.

Hi, I have been experiencing muscle pain during any type of physical activity.

Should any patients with CPT 2 deficiency (carnitine palmitoyltransferase 2 deficiency) happen to read this post, then I would very interested to hear about your symptoms and if there are any treatment options. Thank you.

0 likes, 3 replies

3 Replies

  • Posted

    Hi there, I recently watched the Netflix show with a young girl Angel Parker diagnosed with that disease. Doctors in Italy had recommended a high sugars low fat diet in her case. I have been trying to get into contact with the doctors to determine if that muscle condition is what I have. I have been diagnosed with metabolic myopathy but doctors have not been able to narrow it down. What test determined your CPT 2 deficiency. When did you start experiencing pain and when does it usually occur? During exercise or everyday?

    • Posted

      Sorry the show was Diagnosis, and the doctor behind the series is Lisa Sanders.

Report or request deletion

Thanks for your help!

We want the community to be a useful resource for our users but it is important to remember that the community are not moderated or reviewed by doctors and so you should not rely on opinions or advice given by other users in respect of any healthcare matters. Always speak to your doctor before acting and in cases of emergency seek appropriate medical assistance immediately. Use of the community is subject to our Terms of Use and Privacy Policy and steps will be taken to remove posts identified as being in breach of those terms.