Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification.
Enzymatic activities and kinetics of liver ornithine transcarbamylase (carbamoylphosphate:L-ornithine carbamoyltransferase) were studied in 16 human males with ornithine transcarbamylase mutations. In the same liver fragments, cross-reactive material was measured with specific anti-ornithine transcarbamylase antibody. These studies allowed us to describe five groups of mutations. Two of them were similar on the basis of their enzymatic properties and cross-reactive material amounts to two mouse ornithine transcarbamylase mutations:sparse-fur (spf) and sparse-fur with abnormal skin and hair (spf-ash).
D000641:Ammonia / Q000097:blood; D000818:Animals; D003429:Cross Reactions; D006801:Humans; D007700:Kinetics; D008099:Liver / Q000201:enzymology; D008297:Male; D051379:Mice; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics / Q000276:immunology; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D000641:Ammonia; D009954:Ornithine Carbamoyltransferase