Argininemia.
The clinical features of argininemia in two cousins included hyperactivity, spasticity, ataxia, retardation, and repeated attacks of hyperammonemia. Study of a large kindred suggests that arginase-deficiency is transmitted as a Mendelian recessive. Treatment with an essential amino acid mixture with the total nitrogen intake limited to the requirement, controlled the hyperammonemia, reduced the plasma arginine level, and permitted a marked clinical improvement. There has been a significant increase in intelligence levels; the previously retarded children are now approaching the normal range of function.
D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy / Q000235:genetics*; D000596:Amino Acids / Q000627:therapeutic use; D001119:Arginase / Q000097:blood; D001120:Arginine / Q000097:blood*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D020162:Hyperargininemia; D007223:Infant; D008297:Male; D010375:Pedigree
D000596:Amino Acids; D001120:Arginine; D001119:Arginase