Results 181 to 190 of about 51,297 (232)

Prenatal treatment of ornithine transcarbamylase deficiency.

Molecular Genetics and Metabolism, 2018
Patients with neonatal urea cycle defects (UCDs) typically experience severe hyperammonemia during the first days of life, which results in serious neurological injury or death. Long-term prognosis despite optimal pharmacological and dietary therapy is still poor.
Y. Wilnai, Y. Blumenfeld, Kristina Cusmano, S. Hintz, D. Alcorn, W. Benitz, W. Berquist, J. Bernstein, R. Castillo, W. Concepcion, T. Cowan, K. Cox, D. Lyell, C. Esquivel, Margaret Homeyer, L. Hudgins, Melissa Hurwitz, Jonathan P. Palma, S. Schelley, V. Akula, M. Summar, G. Enns   +21 more
semanticscholar   +3 more sources

Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review

American Journal of Medical Genetics. Part A, 2019
Ornithine transcarbamylase deficiency (OTCD) is a rare X‐linked urea cycle disorder. Maternal OTCD can lead to life‐threatening hyperammonemia if untreated.
M. Torkzaban, Andrew S. Haddad, J. Baxter, V. Berghella, W. Gahl, H. Al-Kouatly   +5 more
semanticscholar   +1 more source

Preimplantation diagnosis for ornithine transcarbamylase deficiency

Reproductive BioMedicine Online, 2000
Ornithine transcarbamylase (OTC) deficiency is a severe X-linked metabolic disorder leading to hyperammonaemia and death shortly after birth. Prenatal diagnosis for OTC deficiency is available, but may require termination of pregnancy if affected. Thus there is a need for an option for pre-pregnancy testing, to pre-select OTC deficiency-free embryos ...
Y, Verlinsky, S, Rechitsky, O, Verlinsky, C, Strom, A, Kuliev   +4 more
openaire   +2 more sources

Immunochemical study of ornithine transcarbamylase deficiency

Journal of Inherited Metabolic Disease, 1984
AbstractDeficiency of ornithine transcarbamylase (OTC, EC 2.1.3.3) (McKusick 31125), a mitochondrial enzyme of the urea cycle, appears to be one of the most frequent causes of inherited ammonia intoxication, and evidence indicates that the enzyme is X‐linked. Recently, different kinds of mutation have been reported (Cathelineauet al., 1972; Briandet al.
H, Kodama, H, Nagayama, H, Shimoizumi, I, Okabe, S, Kamoshita   +4 more
openaire   +2 more sources

Management of Ornithine Transcarbamylase Deficiency in Pregnancy

American Journal of Perinatology, 2010
Ornithine transcarbamylase (OTC) deficiency is the most common enzymatic deficiency in the urea cycle. In catabolic states, such as the intrapartum and immediate postpartum periods, hyperammonemic comas with permanent neurological damage and death can develop.
Hector, Mendez-Figueroa, Kerri, Lamance, V Reid, Sutton, Kjersti, Aagaard-Tillery, Ignatia, Van den Veyver   +4 more
openaire   +2 more sources

The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency.

Gene, 2018
Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder affecting both males and females. Hemizygous males commonly present with severe hyperammonemic encephalopathy during the neonatal period.
V. Chongsrisawat, Ponghatai Damrongphol, C. Ittiwut, Rungnapa Ittiwut, K. Suphapeetiporn, Vorasuk Shotelersuk   +5 more
semanticscholar   +1 more source

Gene therapy for ornithine transcarbamylase deficiency

Pediatrics International, 1996
AbstractOrnithine transcarbamylase (OTC) deficiency in humans is the most common and severe inborn error of the urea cycle. Despite therapeutic advances, OTC deficiency remains without adequate treatment, hence mortality rates are high. In the two available strains of OTC‐deficient murine models, spf and spfash, researchers have tried to make genetic ...
K, Kiwaki, I, Matsuda
openaire   +2 more sources

Recurrent pancreatitis in ornithine transcarbamylase deficiency

Molecular Genetics and Metabolism, 2012
Ornithine transcarbamylase (OTC) deficiency is a urea cycle defect with varying frequency and severity of episodes of hyperammonemia. We report three patients with OTC deficiency with recurrent pancreatitis. The pathogenesis of acute pancreatitis in this patient population requires further elucidation.
Carlos E, Prada, Ajay, Kaul, Robert J, Hopkin, Kimberley I, Page, Jaimie D, Nathan, Dennis W, Bartholomew, Mitchell B, Cohen, James E, Heubi, Nancy D, Leslie, T Andrew, Burrow   +9 more
openaire   +2 more sources

Acquired ornithine transcarbamylase deficiency in pediatric and adolescent patients with fibrolamellar hepatocellular carcinoma

Pediatric Blood & Cancer, 2018
Ornithine transcarbamylase deficiency (OTCD) disrupts the metabolic pathway responsible for converting nitrogenous waste to urea, allowing for excretion.
Allison L. Bartlett, N. Leslie, A. Gupta, James I. Geller   +3 more
semanticscholar   +1 more source

DNA analysis of ornithine transcarbamylase deficiency

European Journal of Pediatrics, 1988
By analysing the restriction fragment length polymorphism (RFLP) detected by an ornithinetranscarbamylase (OTC) gene specific DNA probe, we followed the segregation of the defective gene in two families with OTC deficiency (X-linked disease). We were able to exclude some female family members as carriers.
U, Wendel, E, Wilichowski, J, Schmidtke, C, Bachmann   +3 more
openaire   +2 more sources