Ornithine Transcarbamylase Deficiency

------ an X-linked genetic disorder of the urea cycle that leads to elevated levels of ammonia in the blood because of body's inability to eliminate ammonia.
------ orotic acid in blood in urine
------ decreased BUN

• Anorexia
• Irritability
• Heavy or rapid breathing
• Lethargy
• Vomiting
• Disorientation
• Somnolence
• Asterixis (rare)
• Combativeness
• Obtundation
• Coma
• Cerebral edema
• Death
  
  
  It may occur in any age. 
  
  
  Neurologic symptoms:
  
  
  • Poor coordination
  • Dysdiadochokinesia
  • Hypotonia or hypertonia
  • Ataxia
  • Tremor
  • Seizures and hypothermia
  • Lethargy that progresses to combativeness, obtundation, and coma
  • Decorticate or decerebrate posturing
    
    
    
    
    Treatment:
    ---Immediate temporary discontinuation of protein intake.
    ---Reduction of high level of blood ammonia can be achieved with hemodialysis.
    ---IV: sodium benzoate, sodium phenylacetate, arginine