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Hyperammonemia Hyperammonemia is a metabolic disturbance characterised by an excess of ammonia in the blood. It is a dangerous condition that may lead to encephalopathy and death.
Genetic causes of Hyperammonemia. Organic acidemias result from inhibition of one of the urea cycle enzymes. (metabolic acidosis/and or ketotic hypoglycemia) Fatty oxidation defects. Non- ketotic hypoglycemia. Disorders of pyruvate metabolism. Lactic acidemia usually seen.