arginase deficiency

arginase deficiency

an autosomal-recessive aminoacidopathy involving the biosynthesis of urea; arginine is elevated in blood and urine and may cause secondary cystinuria; orotic aciduria is common, but hyperammonemia is rare. Clinical signs include psychomotor retardation, hepatomegaly, and scalp discoloration. Also called argininemia.

arginase deficiency

Metabolic disease Congenital deficiency of arginase, which results in hyperargininemia and episodic hyperammonemia, leading to mental retardation and spasticity
References in periodicals archive ?
In addition, he is heavily involved in basic molecular genetics research involving regulation of gene expression of arginase and related enzymes in hereditary arginase deficiency and various cancers, population molecular genetic screening, and construction of artificial human mutation samples.
Impaired neurotransmitter amine metabolism in arginase deficiency.