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Metabolic Disorders

Ornithine Transcarbamylase Deficiency

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Ornithine Transcarbamylase Deficiency is the most common disorder of the Urea Cycle.

Inherited in an X-linked recessive pattern, affected patients will have elevated ammonia (hyperammonemia), manifesting as lethargy and asterixis. Other laboratory findings include a decreased BUN, elevated carbamoyl phosphate, and elevated orotic acid.

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