Nearly all of the proteins altered in significant amounts were identified as enzymes associated with important metabolic pathways, such as alcohol dehydrogenase, glyceraldehyde-3-phosphate dehydrogenase (GAPDH), Xaa-His dipeptidase, ornithine carbamoyltransferase
, putative O-acetylserine lyase, enolase (2-phosphoglycerate dehydratase), fructose-bisphosphate aldolase, and cysteine synthase.
7] Human genes: CPS1, carbamoyl-phosphate synthetase 1, mitochondrial; NAGS, N-acetylglutamate synthase; OTC, ornithine carbamoyltransferase
Tamir and Ratner (1963) attributed birds' incapacity to synthesize ornithine, citrulline and Arg to the absence of another enzyme key to the urea cycle, ornithine carbamoyltransferase
This dramatic case stumped physicians until the woman's blood revealed a telltale high level of ammonia, a diagnostic clue suggesting a rare, inherited disorder called ornithine carbamoyltransferase deficiency.
All carried the mutant gene causing ornithine carbamoyltransferase deficiency, and two of the five subsequently died.
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase
deficiency including 14 novel mutations.
The genes surrounding the GK gene, from telomere to centromere, are Xpter-interleukin 1 receptor accessory protein-like 1 (IL1RAPL1); nuclear receptor subfamily 0, group B, member 1 (NR0B1); GK, dystropin (DMD); and ornithine carbamoyltransferase
deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes.
liver-type arginase (ARG), ornithine carbamoyltransferase
(OCT), and argininosuccinate synthase (AS), exist almost exclusively in the liver (1-3) and may serve as more specific markers of liver injury.
X-linked ornithine carbamoyltransferase
(OCT; EC 2.