[The dibasic amino acid metabolic disorders].
The ornithine transcarbamylase deficiency (OTCD), arginase deficiency (ARD), Hyperornithinemia-Hyperammonemia-Homocitrullinuria (H.H.H) syndrome and Lysinuric protein intolerance (LPI) are characterized by the accumulation of the precursors of urea, principally ammonia because of the abnormal metabolism of ornithine, arginine and lysine which are the dibasic amino acid. We mainly described the recent knowledge for these disease and introduced the great advancement of the molecular biology in this field which makes us to give an early diagnosis for these disease to have an early treatment.
Shimizu
H
H
Department of Pediatrics, Jikei University School of Medicine.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D000641:Ammonia / Q000097:blood*; D001120:Arginine / Q000097:blood*; D001803:Blood Transfusion; D002956:Citrulline / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D020162:Hyperargininemia; D009952:Ornithine / Q000097:blood*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D006435:Renal Dialysis
C001352:homocitrulline; D002956:Citrulline; D000641:Ammonia; D001120:Arginine; D009952:Ornithine