描述
Argininemia is caused by a mutation in the gene ARG, encoding liver arginase, which hydrolyses arginine to urea and ornithine in the last step of the urea cycle. A defect in liver arginase causes accumulation of ammonia in blood; arginine, creatine, guanidinoacetate, and homoarginine in plasma; urea nitrogen in serum; arginine and homoarginine in spinal fluid; and arginiosuccinate orotic acid, and uracil in urine. Symptoms include ataxia, cerebral atrophy, chorea, jaundice, and seizures.