Urea Cycle Disorders

Urea cycle disorders are a group of rare genetic conditions that result in a deficiency of one or more enzymes in the urea cycle, the metabolic pathway responsible for removing ammonia from the bloodstream. Ammonia accumulation can be toxic and lead to neurological symptoms, coma, and death if untreated. Management involves dietary modifications, medications to reduce ammonia levels, and in severe cases, liver transplantation.

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