Hyperammonemia brain damage

Carbamyl phosphate synthetase deficiency. Carbamyl phosphate synthetase deficiency is rare. Neonates quickly develop lethargy, hypothermia, vomiting and irritability. The hyperammonemia typically is severe, even exceeding 1 mmol/1. Occasional patients with a partial enzyme deficiency have had a relapsing syndrome of lethargy and irritability upon exposure to protein. Brain damage can occur in both neonatal and late-onset groups. 

Chiidren affiicted with MCAD deficiency experience muscie weakness, iethargy, fasting hypo-giycemia, and hyperammonemia, which mayiead to seizures, coma and, potentiaiiy, brain damage and death. 

Inherited Defects of the Urea Cycle Cause Hyperammonemia and Can Lead to Brain Damage... 

Because the CNS is sensitive to ammonia, its metabolism in the brain and the neurotoxicity associated with hyperammonia and hepatic encephalopathy (the proximate source of damage in the latter is also ammonia) is reviewed here. Hepatic encephalopathy (HE) or congenital and acquired hyperammonemia result in excessive ammonia accumulation within the CNS. The condition is due... 

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