urea cycle disorder

Rare Disease

MONDO:0004739

Also Known As

disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammoniadisorder of urea cycle metabolisminborn disorder of urea cycle metabolism and ammonia detoxificationinborn urea cycle disorderurea cycle defecturea cycle disordersurea cycle metabolism disorderUCDdisorder of urea cycle metabolism and ammonia detoxification

Definition

A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.