methylmalonic acidemia ?

[Guest guest]

I posted this before but was not getting any replies probably because there were

so many posts to my origonal question. I decided to post this as it's own

question/comment. I hope that is ok....

I don't understand it but I know one of 's very first diagnosis was

methylmalonic acidemia. They said there was a very

high amount of methylmalonic acid in his system. We were sent to CHOP for I

genetic test. They took a biopsy from his hip. That turned out not to be the

case though. The tests came back negative. Thank God.

So I wonder why it was so high at that point? I guess it must be a normal level

now. He was only a few months old at the time and he is 5yo now. Will a

pediatric neurologist test for this again?

I know he has had metobolic panel done before. I think some times it would come

back ok and some times it was abnormal. They tested for ciliac with a biopsy and

I guess that was normal. He goes to an allergist on the 30th of this month. I

would think they are doing a rast test. I am not sure. I am pretty sure that

every time they check his ck level it is low. No doc has ever said anything

about it though. I just see the results online. I don't believe that was checked

in quite a while though. What does a low CK level mean anything?

Thanks.

REBECCA