Urea Cycle Disorders...adult onset

[merylg]

Urea Cycle Disorders can manifest in adulthood triggered by...a viral illness.
Aspirin & Valproic Acid (Valproate/Epilim) can bring on Urea Cycle Disorders in susceptible people.

The Urea Cycle is an essential function for which you need healthy mitochondria in a healthy liver.

http://edoc.hu-berlin.de/dissertationen/xie-jing-2003-12-15/HTML/chapter1.html

A disorder of the Urea Cycle leads to elevated levels of Ammonia in the blood plasma & in the brain.
The plasma level does not necessarily reflect the brain level, which can be much higher.

Symptoms:
"Any Age
Milder (or partial) urea cycle enzyme deficiencies can be triggered by illness or stress at almost any time of life resulting in multiple mild elevations ammonia in the blood. The first recognized clinical episode may be delayed for months or years. [Bourrier et al 1988] Hyperammonemic episode (too much ammonia in the blood) is marked by the following:

• loss of appetite,
• repeated vomiting,
• (lethargy) abnormal drowsiness,
• abnormal behavior,
• (sleep disorders) difficulty falling or staying asleep, falling asleep at inappropriate times, excessive total sleep time, or abnormal behaviors associated with sleep ,
• (delusions) a false belief in things that are not true despite the facts,
• (hallucinations) perception of something (as a visual image or a sound) with no known external cause,
• (psychosis) loses touch with reality

• Changes may be seen on an Electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) [Batshaw 1984,Brusilow 1985, Bourrier et al 1988].
  (sorry these links don't work!)
  Diagnosis/Testing
  
  An elevated blood ammonia is a strong indication for the presence of a UCD. Amino acid analysis can be used to diagnose a specific urea cycle disorder. The amino acid arginine may be reduced in all urea cycle disorders, except arginase deficiency, in which it is elevated. A definitive diagnosis of CPSI deficiency, OTC deficiency, or NAGS deficiency is determined using the following:
  • family history,
  • clinical presentation,
  • amino acid and orotic acid testing (lab tests),
  • molecular genetic testing (lab tests),
  • enzyme activity from a liver biopsy specimen or red blood cells (arginase)
  
  Treatment Schedule:
  • reducing the amount of ammonia in the blood
  • medication to assist excretion of the ammonia
  • reducing the amount of nitrogen in the diet
  • introduction of calories supplied by carbohydrates and fat
  • reducing the risk of brain damage"
  
  http://rarediseasesnetwork.epi.usf.edu/ucdc/learnmore/index.htm

http://www.nucdf.org/ucd_kinds.htm

http://en.wikipedia.org/wiki/Urea_cycle_disorder

 

[Enid]

Thanks merylg - definately part of it all at one stage for me if changing colour, density and odour (awful) in urine is a sign too.

 

[merylg]

More ideas for reducing Ammonia here: http://www.livestrong.com/article/111814-ammonia-liver-damage/


"Medical Treatment

High amounts of ammonia affect the brain resulting in confusion, brain damage, coma and can cause death. Early symptoms of ammonia toxicity related to decreasing liver function include inability to concentrate, sleepiness and being prone to irritability. Physicians diagnose ammonia toxicity and use two medicines to lower ammonia levels. The antibiotic neomycin acts in the colon to kill the bacteria that break down proteins and the sugar lactulose reduces the absorption of nitrogen from the intestines.
Low-protein Diet

Limiting the amount of protein from meats, nuts and other protein sources in the diet lowers the potential for ammonia toxicity. Protein cannot be removed from the diet because the body needs the amino acids absorbed from protein to repair cells. The National Institutes of Health recommends 1gm of protein for each kilogram of body weight; however, a physician working with a dietitian will determine the appropriate amount on an individual basis. In addition, reduce salt intake to prevent bloating that may cause swelling in the liver.


Read more: http://www.livestrong.com/article/111814-ammonia-liver-damage/#ixzz2DWLckOVd "

 

[Gavman]

I have it - unfortunately carbs never treated me well and I don't digest fats properly. Gay. Magnesium deficiency is a potential causal factor, I imagine b vitamins to as per enzymes to break down foods. B vitamins can be manufactured by good bacteria, Esp B12. Whee its like a merry go round.