Neonatal citrllinemia: treatment with keto-analogues of essential amino acids.
A patient with neonatal onset citrullinemia survived to 8 months of age when treated with a mixture of essential amino acids and their keto-analogues. The initial plasma citrulline concentration was 2.7 mM; the blood ammonia concentration was greater than 500 muM. During the first week of therapy, the blood ammonia concentration became normal and that of plasma citrulline was reduced by almost 50%. It was possible to institute progressive increases in dietary calories and protein; growth and developmetn with resolution of almost all clinical signs of disease ensued. The patient died at 8 months of age after an episode of diarrhea and dehydration, probably of viral origin.
D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy*; D000601:Amino Acids, Essential / Q000627:therapeutic use*; D001120:Arginine / Q000627:therapeutic use; D001124:Argininosuccinate Synthase / Q000172:deficiency; D002956:Citrulline / Q000097:blood*; D005347:Fibroblasts / Q000201:enzymology; D006639:Histidine / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007532:Isoleucine / Q000627:therapeutic use; D007930:Leucine / Q000627:therapeutic use; D008239:Lysine / Q000627:therapeutic use; D008297:Male; D008715:Methionine / Q000627:therapeutic use; D010649:Phenylalanine / Q000627:therapeutic use; D013912:Threonine / Q000627:therapeutic use; D014364:Tryptophan / Q000627:therapeutic use; D014633:Valine / Q000627:therapeutic use
D000601:Amino Acids, Essential; D007532:Isoleucine; D002956:Citrulline; D013912:Threonine; D010649:Phenylalanine; D006639:Histidine; D014364:Tryptophan; D001120:Arginine; D008715:Methionine; D001124:Argininosuccinate Synthase; D007930:Leucine; D014633:Valine; D008239:Lysine