Urea Cycle Disorder Discussion Board - Re: How do I get diagnosed? 25 y/o male with suspected UCD.

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Hi Vhris

Sorry to hear what you're going through, the main ways of getting diagnosed r through regular monitoring of ur blood ammonia levels and also citrulline levels. The other way is to actually have a dna test done on ur blood because if it is a UCD it is genetic and there will be a genetic mutation which they may be able to identify but there r only a few labs in the world who can do this I think my sons was doen in Germany. Where r u based?

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How do I get diagnosed? 25 y/o male with suspected UCD. — Christopher Vidrine, Fri Nov 25 21:52

My entire life I've had an aversion to food but it seems to have gotten much more severe recently. As a child, I was underweight but normal. As far back as I can remember I have suffered severe brain ... more
- How to get diagnosed — Cindy Le Mons, Sun Nov 27 12:01
  
  Hi Christopher, Unfortunately it's pretty rare to be able to get diagnosed at a "local" or small hospital. Even major university hospitals sometimes do not have the expertise. It would be unusual to... more
- - Re: How to get diagnosed — Anonymous, Mon Nov 28 02:04
    
    See the reactions I have are that I experience extreme sleepiness 30-45 minutes following a meal and it can last between 15 minutes for the most mild reactions to over 5 hours for high protein meals, ... more
- Re: How do I get diagnosed? 25 y/o male with suspected UCD. — nadia, Sat Nov 26 13:12
- Re: How do I get diagnosed? 25 y/o male with suspected UCD. — Anonymous, Sat Nov 26 07:22
  
  what is your ammonia level during crisis? Have they ever done an amino acid profile?

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