metabolic issues - elevated lactic acid?

[Kat'smum]

Just wondering if anyone else's bubs has gone though this?

My DS is 2 years old and has some speech and language delays. (as well as some autistic "type" obsessions which are quite mild)

As part of his general develop pead appt he had a whole heap of bloods done - and it was picked up that he had elevated levels of lactic acid in his blood.

He has seen the proffesor of Matabolics at the Mater Childrens in Brisbane and he is in the process of getting some more blood work and urine tests done.

He did a quick general check in which he said that DS did not have anything major that stood out to him to have a major metabolic problem as such.

Just wondering if anyone out there is or has gone though a simmilar thing and what it could mean?

Thanks

Amanda

[kiwibird27]

Hey, don't know much about high lactic acid but my daughter has a metabolic condition and i know how very complex metabolic conditions are to diagnose. Good luck, I am sure it will be something simple!!! Buts its kinda like searching for a needle in a haystack with a blind fold on!!!!

[mummyof5]

I have been where you are, and now at 4 years of age and heaps of metabolic tests undr his belt, my son still has no diagnosis, he was found to have elevated levels of somethings, low levels of others, but never enough of any one thing to diagnose him...I was told by the professor of metabolics at the Royal children's Melbourne that he may well be a one off, or simply could be a case that they know more about metabolic's than they can test for/diagnose at this point, so he may get a diagnosis in some years time....doesn't really help does it?
My son has speech delays, motor delays, quite a few autistic behaviours, small stature (he is quite a bit below the centile charts, size of an average 2 year old), hearing and sight issues.
My geneticist here in the hunter believes he has an unbalanced translocation and that is the cause of his problems...but even that diagnosis doesn't help much unless they can point you in the direction of another person with the same inbalance so you can see what to expect, if that makes any sense...
The other thing you should ask about is fragile x syndrome...it is the major cause of developmental delay in boys, but not routinely checked for. My son doesn't have it, but turns out I am a carrier and so are some of my children.
Feel free to pm me if you need to ask any more questions.:yes: