Human Genes: ZFX, zincfinger protein, X-linked; ZFY, zinc finger protein, Y-linked; GJB2, gap junction protein beta 2; OTC, ornithine carbamoyltransferase
Briefly, fresh brains were removed without fixation, then immersed and frozen in ornithine carbamoyltransferase
(OCT) compound (Tissue-Tek, Torrance, CA) by dry ice.
Ornithine transcarbamylase (OTC) deficiency (also referred to as ornithine carbamoyltransferase
deficiency) is an Xlinked proximal urea cycle disorder that results in a spectrum of severe neonatal-onset disease in boys, rarely in girls, and a milder adult-onset presentation.
Additionally, IFM demonstrated higher protein import rates for the precursors to malate dehydrogenase and ornithine carbamoyltransferase
 reported mild leukocytosis in hyperammonemic patients with ornithine carbamoyltransferase
deficiency and Aggarwal et al.
The majority of these expressed proteins were involved in glycolysis (enolase, fructose-bisphosphate aldolase, glyceraldehyde-3-phosphate dehydrogenase, L-lactate dehydrogenase, 6-phosphofructokinase, glucose-6-phosphate isomerase, phosphoglycerate kinase, phosphopyruvate hydratase, pyruvate kinase, triosephosphate isomerase, and 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase) and the remaining proteins were involved in fer-mentation (alcohol-acetaldehyde dehydrogenase, formate ace-tyltransferase, and pyruvate-formate lyase), the pentose phosphate pathway (6-phosphogluconate dehydrogenase [decarboxylating]), pyruvate decarboxylation (pyruvate dehydrogenase complex E2 component), and the urea cycle (ornithine carbamoyltransferase
This hypothesis is supported by expression of arcA, arcB, arcC, and arcD, genes predicted to encode an arginine deiminase, an ornithine carbamoyltransferase
, a carbamate kinase, and an arginine/ornithine antiporter, respectively (Table 3).
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.
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
One of the girls who died after dermal exposure was partially deficient in the enzyme ornithine carbamoyltransferase
(3); DEET may interfere with the urea cycle metabolic pathway (10).
In serum, the following enzyme activities were quantified: lactic dehydrogenase (LDH; EC 126.96.36.199), alanine aminotransferase (ALT; EC 188.8.131.52), and ornithine carbamoyltransferase
(OCT; EC 184.108.40.206) by the methods described elsewhere .