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Glutaric aciduria type 1-Any info? Please help!

rcultronarcultrona member
in Special Needs
DS is 6 days old and last night we received a call from our pediatrician that his newborn screening came back with higher than normal level of  C5DC which can be an indicator of GA1, a genetic metabolic chromosomal disorder. His level was .6 and California requires further testing for levels over .5 so now we have to do further testing.  Our pediatrician said he wouldn't worry and that the test is just a precaution but the concern is still there. Some states don't even do follow up testing if levels are under .7 or .8 and while I know the chances are slim I am still freaking out. It is so rare that there isn't a lot on the internet so getting information is impossible. Has anyone else had this come back on their screening? Any info is greatly appreciated!
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Re: Glutaric aciduria type 1-Any info? Please help!

  • mightmom13mightmom13 member
    Hi

    I have GA2 with mitochondrial myopathy - it is treatable and this is a really good mitochondrial site:www.umdf.org. DD is being seen by genetics now too for all her issues that are similar but more severe than mine were at her age. Basically it can all be treated with diet and meds; I won't say it's always easy and there are symptoms of it that are hard, weakness, being vigilant with diet/nutrition during the first several years of life to give your DS the best his body needs. 

    Basically there are enzymes that are lacking in the body at the cellular level that can't breakdown certain enzymes/proteins found in a lot of food. For me it's medium-long chain fatty acids. I have a metabolic and neuro component to mine. Find a geneticist, bio-medical and/or metabolic specialist asap if this is what you are dealing with and immediately ask for a nutritionist to be on your team. 
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  • rcultronarcultrona member
    mightmom13 said:
    Hi

    I have GA2 with mitochondrial myopathy - it is treatable and this is a really good mitochondrial site:www.umdf.org. DD is being seen by genetics now too for all her issues that are similar but more severe than mine were at her age. Basically it can all be treated with diet and meds; I won't say it's always easy and there are symptoms of it that are hard, weakness, being vigilant with diet/nutrition during the first several years of life to give your DS the best his body needs. 

    Basically there are enzymes that are lacking in the body at the cellular level that can't breakdown certain enzymes/proteins found in a lot of food. For me it's medium-long chain fatty acids. I have a metabolic and neuro component to mine. Find a geneticist, bio-medical and/or metabolic specialist asap if this is what you are dealing with and immediately ask for a nutritionist to be on your team. 
    Thank you so much! We have found some useful articles but since it is so rare most of the information is very clinical and therefore sounds even more terrible. All the best to you and good thoughts and prayers to your DD.
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  • mariosvmariosv member
    Hello. Our daughter was diagnosed at 18 months with Glutaric Aciduria Type 1 (also called Glutaric Acidemia Type 1 or GA1)
    She is on a low lysine diet and on carnitine supplementation. She is also taking an amino acid formula that is free of lysine and low in tryptophan. Anything you want to ask me please go ahead I would be glad to help
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  • rcultronarcultrona member
    @mariosv Thank you so much! It is so hard to find anything factual about this condition that isn't part of a medical abstract. If you don't mind me asking do you remember what your daughters levels were at the initial screening? You said she was diagnosed at 18 months, did they not catch it during the newborn screening? What led you to get her tested at that point? 

    Also, the diet/suppliments. Do you find it hard to stick to? Obviously we will do whatever needs to be done for our LO but I worry that if he does have this as he gets older it will be harder to monitor  ( ie when he is in daycare or with friends). 
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  • mariosvmariosv member
    edited October 2014
    Hello. Sorry for my late reply.. I just saw the msg.. Well actually our daughter was identified after an episode of lethargy @18 months of age. No newborn screening is performed in the place we live (Cyprus - Europe).

    Also unfortunately no metabolic specialists exist in Cyprus. We have visited a metabolic center in Germany where they evaluated our daughter and provided us with a low lysine diet.

    We have changed several amino-acid blends, GA Gel, Glutarade (with no success), and eventually we are giving the LTAM-1. She got used to it.. although she does not like it, she can tolerate it better than the previous ones she was taking... I know what you mean that as they get older it will be harder to monitor.. that's what we afraid as well, however so far we are handling it ok, and it seems that she now understands that if she eats the 'forbidden foods' she will get sick :(...... Good luck to you and keep in touch

    Best Regards,
    Marios
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