measure the enzyme (glutamine synthetase) in the blood of your children

Hallow

My son is the only one alive patient who is diagnosed with (glutamine synthetase deficiency) . but he shared, with the propionic acidemia and methylmalonic academia , the biochemical abnormalities of (low glutamine and elevated ammonia )

I read about a clinical trial of giving these children (glutamine supplement)

I wrote to the doctors in the national institute of health saying this is simply may be wrong because glutamine is a down regulator of glutamine synthetase…. Glutamine synthetase is the only one tool by which the brain can detoxify ammonia. So we have to defend this enzyme, in order to protect the brain from ammonia, not to down regulate it

However I suggest that you, as families have to convince the doctors to measure the enzyme glutamine synthetase in the blood of your children, because if it is found to be deficient due to any biochemical reason, there is effective means to enhance it so that ammonia in the brain will be washed out effectively.

I hope what I said is clear.
I know that doctors will insist on giving the patients (glutamine supplement) but this will never solve the problem in my opinion.

Ammar ajool

Doha Qatar- aljazeera network

Tel 009745137270