Progress in the diagnosis, treatment and pathogenesis of argininemia / 中华实用儿科临床杂志

ABSTRACT

Argininemia is a rare autosomal recessive inherited disease, characterized by complex and diverse clinical symptoms.Its pathogenesis remains unclarified.The oligodendrocytes and neuro injury caused by energy meta-bolism disorders may account for neurosystem damage.The basic treatment methods for argininemia are the low-protein diet and nitrogen scavenger, which, however, cannot effectively prevent the progress of the neurological damage.Enzyme replacement or gene therapy is an ideal regimen for argininemia.However, gene editing therapy has not been applied in clinical practice.Liver transplantation (LT) is currently a practical option for argininemia treatment.Although LT cannot repair genetic defects in patients, but it can supplement arginase I, normalize plasma arginine and its metabolites, prevent progressive damage, relieve neurological symptoms, and improve the patients quality of life.For the low incidence of argininemia, it is not fully understood.In this paper, the clinical characteristics, pathogenesis, diagnosis, and treatment of argininemia were reviewed, in order to further more people′s understanding of this disease.