Postpartum Mental Status or Psychiatric Change in a Woman with Ornithine Transcarbamylase or Other Urea Cycle Enzyme Deficiency

 

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