Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance.
The first patient of Turkish descent with hyperdibasicaminoaciduria is described. Recurrent diarrhea was observed only during the first three months of life. The infant exhibited low plasma levels of ornithine and arginine. Intestinal absorption of lysine was decreased. Hyperammonemia was noticed only after an i.v. alanine load. It was prevented by addition of arginine.
D001120:Arginine / Q000097:blood; D003967:Diarrhea / Q000150:complications; D006801:Humans; D007223:Infant; D007408:Intestinal Absorption; D008239:Lysine / Q000378:metabolism; D008297:Male; D009952:Ornithine / Q000097:blood; D000608:Renal Aminoacidurias / Q000150:complications / Q000175:diagnosis*; D014421:Turkey
D001120:Arginine; D009952:Ornithine; D008239:Lysine