I'm an MSI but wasn't sure where to post this...I thought someone here might have an idea. Although I'm definitely not a doctor yet, I'm trying to find out some information for a friend of mine who is having medical problems. I don't know all her history, but basically she's in her early 30s and is a very competitive athlete...and only this year she began having extreme pain in her muscles, especially after exercising.

She said she's had a lot of tests, but that she generally appears to be "too strong" to the doctors to have anything seriously wrong with her muscles. It was discovered that she had a carnitine deficiency, though, as well as too-high levels of ammonia in her blood (please excuse the non-medical terminology!).

And she says she's been taking carnitine supplements, and her blood levels are back to normal...but the symptoms are still there.

I know I'm not her doctor, but she is in so much pain daily that I offered to at least do a search to see if I could find out any information for her. But I thought someone here might have a suggestion...I know it is likely difficult without knowing her whole history...but any ideas?!

Thanks so much.

This seems like a systemic carnitine deficiency, which is a subclass of fatty acid oxidation disorders. What other information regarding symptomatology can you give me other than the hyperammonemia and myalgias? Anyone else in her family similarly affected?

-Eric