Rare Disease Day 2022: Urea Cycle Disorders

Rare Disease Day 2022: Urea Cycle Disorders

Urea Cycle Disorders are a group of inherited diseases that causes a deficiency in one of the enzymes involved in the urea cycle.  Each sub-type of the disorder group is named after the particular enzyme that is deficient. The urea cycle converts the nitrogen which is a waste product of protein metabolism into ammonia in the bloodstream, into urea which is then excreted as urine.  Without one of the six enzymes necessary to complete the cycle levels of ammonia, which is highly toxic, build in the blood.  Ammonia can cross the blood brain barrier so the consequence of hyperammonaemia can be irreversible brain damage, coma and/or death.

Management of the conditions is typically through low protein diet alongside nitrogen binding therapies. Although there is no long-term cure, the conditions if caught early can be successfully managed, although much is dependent on how closely the treatment plan is followed. A liver transplant can also reverse the symptoms.

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