NHS Tests - Metabolic Test Results - can anyone shed any light on these?

[Guest guest]

I have read the recent related posts which has prompted me to post our

experience.

Earlier this year we had a number of tests through an NHS Neurologist, the

lumbar puncture, blood samples, urine samples and MRI scan. We have also been

referred to a Geneticist and to the GOLD Project

All tests from neurologist came back 'normal' except for the MRI showing a mild

degree of periventricular leukomalacia and the blood ammonia being high at 73

umol/L which was explained away by stating he had a toruniquet to take the

sample and that can lead to a false high reading. I started him on 900mg of

Alpha Ketaglutric Acid and restricted meat protein in any event.

However this was retested in Oct by dripping the blood (my sons veins are too

deep and narrow apparently to take any other way unless he is sedated) and still

came back high.

Also has high Urea Serum at 7.0 mmol/L and high Creatinine Serum at 66 umol/L. I

only got hold of a copy of the results via community paediatrecian today who

couldn't explain to me their significance.

Left exasperated as I have called the neurologist every day for weeks to discuss

the results! If anyone has any comments on what these might indicate I would be

very grateful or if anyone has seen a Metabolic Dr they would recommend.

I have decided to try yasko to see if that sheds any light on matters for us.

Waiting for the kit, hope we don't need too much blood!

Thanks