Use of keto acids in inborn errors of urea synthesis.
Our experience with nitrogen-free analog therapy of these disorders indicates that these compounds are adequate nutritional supplements which are non-toxic and which promote mental and somatic growth. They prevent or reduce hyperammonemia for varying periods of time in three of these disorders, but as yet have not prevented hyperammonemic coma and death in infants with complete enzyme deficiencies. Further work wi-l be necessary to determine how impending hyperammonemic coma can be detected before it becomes irreversible, as asll as to improve the therapy of hyperammonemic coma when it develops.
D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy*; D000596:Amino Acids; D002223:Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D005260:Female; D005526:Food, Formulated; D006801:Humans; D007223:Infant; D007225:Infant Food; D007231:Infant, Newborn; D007651:Keto Acids; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D014508:Urea / Q000378:metabolism*
D000596:Amino Acids; D007651:Keto Acids; D014508:Urea; D002223:Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)