The pathogenesis,clinical manifestation and treatment of argininemia / 国际儿科学杂志

ABSTRACT

Argininemia(OMIM 207 800) is an autosomal recessive inherited metabolic disease of urea cycle disorders caused by deficiency of arginase I.Arginase I(AI) is the enzyme involved in the final step of the urea cycle which catalyzes the hydrolysis of arginine to ornithine and urea.The patients untreated will undergo the slowly progressive course and spastic tetraplegia,seizures and mental retardation.Unlike other urea cycle disorders,Argininemia is not generally associated with severe hyperammonemia.It is unlikely that elevated plasma ammonia is the main neurotoxic compound in argininemia because hyperammonemia rarely occurs in this condition.These neurological complications could result from the accumulation of arginine and its metabolites.argininemia can be diagnosed by ARG gene analysis or arginase acivity assay.Early diagnosis of argininemia through newborn screening program by tandem mass spectrometry may lead to a better outcome.