Carnitine tests back...

[mrsfru]

SBGrace and anyone else who understands this, please reply! Thanks so much!

I have no idea if these are from the urine organic acids or the blood....I'm assuming it's the blood, but could certainly be wrong. Also, it's my understanding that if the blood wasn't handled correctly (wouldn't be surprised if it wasn't!), the results we got are definitely possible.

Glutamine and Ornithine: mildly elevated
Arginine: mildly low
Citrulline: normal

NO Arginiosc....acid found (missed the spelling on this one, sorry, maybe someone will know exactly what it is!)

Pediatrician said this adds up to "we don't know right now" and he isn't sure of the next step yet. It doesn't offer a clear diagnosis (I wasn't expecting this testing to do that anyways.) Obviously, the results will be sent to the geneticist we have an appt w/later this summer.

Thanks!

mrsfru

[sbgrace]

This isn't carnitine. It's some amino acids (not a full profile). I assume from blood (our amino acid tests were blood). Andrew's amino acids were normal so I'm not sure if those results are significant or not. I'll try to do some searching.

Did they run carnitine? I'm wondering if you didn't get all the results because the things you mentioned aren't even a full amino acid profile, they aren't urine organic acids, and it's not carnitine either.

Ornithine might be something...your pediatrician can't handle metabolic interpretation. I ran into that. This is such a specialized field. What he can do is run all the labs (fasting, right?) and then refer you to a specialist and/or consult with a specialist. If you come up with mito markers who you can see is really limited as not even most metabolics do well with that one yet.

[mrsfru]

Originally Posted by sbgrace

This isn't carnitine. It's some amino acids (not a full profile). I assume from blood (our amino acid tests were blood). Andrew's amino acids were normal so I'm not sure if those results are significant or not. I'll try to do some searching.

Did they run carnitine? I'm wondering if you didn't get all the results because the things you mentioned aren't even a full amino acid profile, they aren't urine organic acids, and it's not carnitine either.

Ornithine might be something...your pediatrician can't handle metabolic interpretation. I ran into that. This is such a specialized field. What he can do is run all the labs (fasting, right?) and then refer you to a specialist and/or consult with a specialist. If you come up with mito markers who you can see is really limited as not even most metabolics do well with that one yet.

Yes, they did run free carnitine and carnitine and urine organic acids, but obviously, not everything is back yet. This is all we got today. I think that's why I'm so confused.

And yes, we know our ped can't really interpret this--he knows this, too. He's calling the geneticist that told him what to order and having her see us--hopefully, we'll get to see her soon, instead of waiting for our appt in June! (And yes, we did the labs fasting--the laboratory at Children's was like, "Well, only if the doc says so...", so I called him and he said, "Might as well, instead of doing it twice." Plus, my mil and fil are both lab techs (the kind w/the real degree from almost 40 years ago LOL), and she said they should be done fasting!

Thanks for the help! I'm sure I'll get more back in the next few days--doc's nurse said she'd call me back w/the rest as soon as it comes in.

mrsfru

[mrsfru]

Ah...and sorry for the misleading title.....I couldn't think of what those results were actually called/from.

Thanks for the help!

mrsfru

[sbgrace]

Good! It sounds like your doctor is doing a good job. Let me know about the results when you get them. They do take different amounts of time in my experience--they send them to various places. I'd ask the doctor to fax you a copy. I've found it's always better to have the labs in my possession.

[mrsfru]

Originally Posted by sbgrace

Good! It sounds like your doctor is doing a good job. Let me know about the results when you get them. They do take different amounts of time in my experience--they send them to various places. I'd ask the doctor to fax you a copy. I've found it's always better to have the labs in my possession.

Ah, good idea. That would be helpful, wouldn't it?

What a week!

Thanks!

mrsfru

[mrsfru]

Originally Posted by sbgrace

Good! It sounds like your doctor is doing a good job. Let me know about the results when you get them. They do take different amounts of time in my experience--they send them to various places. I'd ask the doctor to fax you a copy. I've found it's always better to have the labs in my possession.

Well, I got back something today....I don't think my ped's office even gets that everything isn't back yet. Does it always take this long?

Here's what was run:

Urine organic acids
Plasma amino acids and lactic acid
Acylcarnitine profile (did he mean "acetyl...carnitine?)
Total carnitine level
Free carnitine level

And all I have is those amino acids I mentioned in the beginning of this post, plus the blood stating that the acylcarnitine profile is normal (w/all of the numbers shown on it, which mean nothing to me).

There is a note from the PhD at Baylor that did these labs:

"Note Glutamine and Ornithine mildly elevated; Citrulline is normal; Arginine mildly low, and no Argininosuccinic Acid detected. Is Ammonia normal? This specimen is not diagnostic of primary amino acid disorder."

My ped underlined the last sentence, and added "Lactic Acid 0-80 Normal" AND "A few amino acid levels mildly higher or lower than normal, but no large abnormality that points to a clear diagnosis."

Does it always take longer for the urine? Is the urine more likely to show anything than the blood?

Thanks!!!

mrsfru

[sbgrace]

It depends on the kid I think. Andrew's blood/amino acids have always been normal. He puts up a single urine organic acid flag pretty regularly but his main initial abnormal findings were in his carnitine profile. That said, Cleveland Clinic told us that kids with mito can come back completely normal. They run three tests (under increasing stress, starting with fasting, then during illness) before they decide to move on I was told. He also told me that no matter how Andrew came out he would try a mito treatment because he presented like a mito kid. So...this metabolic stuff is tricky.
I don't know if those amino acids are flags in mito (Baylor isn't looking for mito). Is his ammonia normal?

[mrsfru]

Originally Posted by sbgrace

It depends on the kid I think. Andrew's blood/amino acids have always been normal. He puts up a single urine organic acid flag pretty regularly but his main initial abnormal findings were in his carnitine profile. That said, Cleveland Clinic told us that kids with mito can come back completely normal. They run three tests (under increasing stress, starting with fasting, then during illness) before they decide to move on I was told. He also told me that no matter how Andrew came out he would try a mito treatment because he presented like a mito kid. So...this metabolic stuff is tricky.
I don't know if those amino acids are flags in mito (Baylor isn't looking for mito). Is his ammonia normal?

That's what the tech at Baylor asked, too, "Is ammonia normal?" Apparently, they didn't test that....so, I guess we know *nothing* from this testing so far! It figures. Ugh. I"ll have to call his ped on Monday and find out if the urine stuff is back or it technically it's included in this paperwork, but it doesn't say specifically. I guess there's more they need to do, too, but he's sending us to the geneticist anyways!

Thanks!

mrsfru