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hyperammonemia
Increased levels of ammonia in blood.
Etiology:
1) inherited (see Genetics)
2) acquired (see ammonia in plasma)
Genetics:
- inborn metabolic disorders of the urea cycle
1] increased fasting NH3
a] hyperammonemia type 1
b] argininemia
c] ornithinemia
2] increase following protein intake
a] hyperammonemia type 2
b] citrullinuria
c] argininosuccinic aciduria
d] lysine intolerance
e] hyperlysinuria
f] dibasic aminoaciduria type 2
g) CPS1 deficiency
Laboratory:
1) if plasma ammonia is < 100-150 umol/L, no further diagnostic testing is indicated
2) arterial blood gas
3) serum chemistries
- serum lactate, serum glucose, electrolytes, anion gap,
4) plasma citrulline
5) 24 hour urine orotic acid
Management:
1) rehydration with maintenance of good urine output
2) hemodialysis for plasma ammonia > 200 umol/L
3) sodium phenylacetate & sodium benzoate (Ammonul) (investigational)
4) reduced protein intake
5) minimization of enterohepatic circulation by reducing fecal transit time
a) lactulose
b) sorbitol
Related
ammonia in blood
Specific
hepatic encephalopathy
ornithine hyperammonemia; ornithine carbamoyltransferase deficiency
General
sign/symptom
References
http://www.utdol.com