Urea cycle disorders

Inborn sensors of metabolism with episodic life threatening hyperammonemia.

Due to partial or complete inactivity of enzymes that eliminate nitrogenous wastes.

Associated with high morbidity and mortality.

Survivors commonly have severe neurologic problems.

Initially treatment included lactulose therapy, exchange transfusions, peritoneal dialysis, hemodialysis, and nitrogen free analogues of essential amino acids, all with limited benefits.

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