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

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.

Analysis of AGR1 gene variants in an infant with early-onset argininemia / 中华医学遗传学杂志

Objective@#To explore the genetic basis for an infant with early-onset argininemia.@*Methods@#Potential variant was detected with an Ion Torrent semiconductor sequencer using a gene panel for inherited diseases. Suspected variants were verified by Sanger sequencing.@*Results@#Genetic testing indicated that he has carried c. 560+ 2T>C and c. 811T>C compound heterozygous variant of the AGR1 gene, which were inherited from his father and mother, respectively. Among these, c. 560+ 2T>C was suspected to be pathogenic, while c. 811T>C was of unknown clinical significance, and both were not reported previously.@*Conclusion@#The c. 560+ 2T>C and c. 811T>C compound heterozygous variants of the AGR1 gene probably underlies the argininemia in this child. Above finding has enriched the variant spectrum of the AGR1 gene.

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

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.