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Severe Sepsis Associated With Multiorgan Failure and Precipitating Nonhepatic Hyperammonemia Crisis in Late-Onset Ornithine Transcarbamylase Deficiency: A Case Report and Literature Review. [PDF]

Cureus
Forsah SF, Ugwendum D, Arrey Agbor DB, Ndemazie NB, Kankeu Tonpouwo G, Ndema N, Taylor AA, Nfonoyim J.   +7 more
europepmc   +1 more source

Ornithine Transcarbamylase Deficiency Diagnosed in Pregnancy

Gynecological Endocrinology, 2011
Urea cycle enzymes deficiencies are rare metabolic disorders. Ornithine transcarbamylase (OTC) deficiency is the most common type. The syndrome results from a deficiency of the mitochondrial enzyme OTC which catalyses the conversion of ornithine and ...
Özlem Çelik, Özer Açbay
exaly   +5 more sources

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Anesthesia management protocol for liver transplantation as treatment for ornithine transcarbamylase deficiency

Paediatric anaesthesia, 2023
Ornithine transcarbamylase deficiency is an X‐linked genetic disorder that induces accumulation of ammonia in the liver and is the most common urea cycle disorder. The clinical manifestation of ornithine transcarbamylase deficiency is hyperammonemia that
Chiaki Baba, Sho Yukimasa, Risa Yasuno, Hiroki Ichiyanagi, J. Ninagawa, Shugo Kasuya, M. Kasahara, R. Horikawa, Y. Nagasaka, Yasuyuki Suzuki   +9 more
semanticscholar   +1 more source

Crystalline ornithine transcarbamylase

Biochimica et Biophysica Acta (BBA) - Enzymology, 1967
Abstract Ornithine transcarbamylase (carbamoyl phosphate: l -ornithine carbamoyl transferase, EC 2.1.2.2) from arginine grown Streptococcus D10 cells was purified to homogeneity by acid, solvent, heat, and salt fractionation. The enzyme was then crystallized from an ammonium sulfate solution. Some molecular properties of the enzyme are described.
S H, Bishop, S, Grisolia
openaire   +2 more sources

Ornithine Transcarbamylase Deficiency and Pancreatitis

Journal of Pediatrics, 2001
We describe a male patient with a Y202H ornithine transcarbamylase deficiency gene mutation who had pancreatitis while taking a low-protein diet, citrulline, and sodium phenylbutyrate.
Gerard Berry
exaly   +3 more sources

Ornithine transcarbamylase in liver mitochondria

Molecular and Cellular Biochemistry, 1982
Ornithine transcarbamylase (ornithine carbamoyltransferase, EC 2.1.3.3), the second enzyme of urea synthesis, is localized in the matrix of liver mitochondria of ureotelic animals. The enzyme is encoded by a nuclear gene, synthesized outside the mitochondria, and must then be transported into the organelle. The rat liver enzyme is initially synthesized
M, Mori, S, Miura, T, Morita, M, Takiguchi, M, Tatibana   +4 more
openaire   +2 more sources

Ornithine transcarbamylase deficiency in pregnancy

Journal of Inherited Metabolic Disease, 2005
SummaryWomen heterozygous for mutations at the ornithine transcarbamylase (OTC) locus may be at risk for hyperammonaemia and its untoward effects including coma and death in the postpartum period. We present the case of a pregnant woman heterozygous for OTC deficiency (McKusick 311250) whose past medical history was significant for two prior ...
D R, Cordero, J, Baker, D, Dorinzi, R, Toffle   +3 more
openaire   +2 more sources

DNA Analysis for Ornithine Transcarbamylase Deficiency

Journal of Inherited Metabolic Disease, 1986
AbstractWe have utilized the Southern blotting technique to analyse genomic DNA from males with ornithine transcarbamylase (OTC) deficiency and their families. Using a nearly full‐length human cDNA probe, we have identified 3 patients with deletions at this locus and have characterized 4 different restriction fragment length polymorphisms that can be ...
R, Rozen, J E, Fox, A M, Hack, W A, Fenton, A L, Horwich, L E, Rosenberg   +5 more
openaire   +2 more sources

Improving the enzyme property of ornithine transcarbamylase from Lactobacillus brevis through site-directed mutation

, 2020
Ornithine transcarbamylase (OTC) is an enzyme that participates in the degradation of arginine by catalyzing the formation of ornithine and carbamoyl phosphate from citrulline, which is a major precursor of ethyl carbamate (EC), a potential carcinogen in
Ruo-Si Fang, Jason Chandra Syahputra, Osasu Airhunmwunde, Yuan-feng Wu, Chang-Jiang Lv, Jun Huang, Gong-Nian Xiao, Qihe Chen   +7 more
semanticscholar   +1 more source