A woman with a urea cycle enzyme deficiency may present with mental status change, psychiatric disorder or coma in the postpartum period.


Inheritance: X-linked, with woman as asymptomatic carrier


Trigger for metabolic imbalance: prolonged catabolic state


Clues to the diagnosis:

(1) history of avoiding of high protein foods

(2) history of unexplained headaches or other neurologic findings

(3) history of other family members with similar history

(4) diagnosis of urea cycle enzyme deficiency in child


The patient may show:

(1) hyperammonemia

(2) hyperglutaminemia

(3) orotic aciduria

(4) cerebral edema with respiratory alkalosis


Failures in diagnosis:

(1) misdiagnosis of post-partum depression

(2) failure to measure blood ammonia


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