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Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again [PDF]

Case Reports in Critical Care, 2017
Ornithine transcarbamylase (OTC) deficiency is well known for its diagnosis in the neonatal period. Presentation often occurs after protein feeding and manifests as poor oral intake, vomiting, lethargy progressing to seizure, respiratory difficulty, and ...
Christan D. Santos, Robert A. Ratzlaff, Jennifer C. Meder, Paldeep S. Atwal, Nicole E. Joyce   +4 more
doaj   +2 more sources

Acute fulminant encephalopathy in an adult due to ornithine transcarbamylase deficiency [PDF]

Annals of Indian Academy of Neurology, 2022
Vivek K Nambiar, Aakash Shridharani, Sudheeran Kannoth, Siby Gopinath, Anand Kumar   +4 more
doaj   +2 more sources

Prednisolone reduces the interferon response to AAV in cynomolgus macaques and may increase liver gene expression

Molecular Therapy: Methods & Clinical Development, 2022
Ornithine transcarbamylase deficiency is a rare X-linked genetic urea cycle disorder leading to episodes of acute hyperammonemia, adverse cognitive and neurological effects, hospitalizations, and in some cases death.
Lili Wang, Claude C. Warzecha, Alexander Kistner, Jessica A. Chichester, Peter Bell, Elizabeth L. Buza, Zhenning He, M. Betina Pampena, Julien Couthouis, Sunjay Sethi, Kathleen McKeever, Michael R. Betts, Emil Kakkis, James M. Wilson, Samuel Wadsworth, Barbara A. Sullivan   +15 more
doaj   +1 more source

AIF1+CSF1R+ MSCs, induced by TNF‐α, act to generate an inflammatory microenvironment and promote hepatocarcinogenesis

Hepatology, EarlyView., 2022
Mesenchymal stem cells subset, educated by TNF‐α, are involved to generate inflammatory microenvironment and promote hepatocarcinogenesis Abstract Background and Aims Increasing evidence suggests that mesenchymal stem cells (MSCs) home to injured local tissues and the tumor microenvironment in the liver.
Chen Zong, Yan Meng, Fei Ye, Xue Yang, Rong Li, Jinghua Jiang, Qiudong Zhao, Lu Gao, Zhipeng Han, Lixin Wei   +9 more
wiley   +1 more source

Considerations on urea cycle disorders: a child with ornithine transcarbamylase deficiency. [PDF]

Pediatric Anesthesia and Critical Care Journal (PACCJ), 2016
Ornithine transcarbamylase deficiency is the most common inside the group of the urea cycle disorders. Anesthesic management focus on reduce the patient ́s stress along all the surgical process.
M. Bellido, M. Gonzalez Perez, A. Martinez Ruiz, I. Barcelo   +3 more
doaj   +1 more source

Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance

Clinical Case Reports, 2022
A three‐year‐old Chinese girl presented with hyperammonemia was diagnosed biochemically and genetically (heterozygous for a novel likely pathogenic missense variant c.476T>A) as having ornithine transcarbamylase (OTC) deficiency, a rare X‐linked ...
Toby Chun Hei Chan, Hoi Ning Cheung, Jasmine Chow, Mei Tik Leung, Sammy Pak Lam Chen, Chi Chung Shek   +5 more
doaj   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Ward, N.J., Buckley, S.M.K., Ward, NJ, Chan, J.K.Y., Waddington, S.N., Rahim, A.A., Waddington, SN, Rahim, AA, Chan, JK, Mckay, T.R., Howe, S.J., Howe, SJ, McKay, TR, Natalie J. Ward, Ahad A. Rahim, Steven J. Howe, Jerry K.Y.Chan, Suzanne M.K. Buckley, Simon N. Waddington, Tristan R. McKay   +20 more
core   +1 more source

Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency

BMC Gastroenterology, 2022
Background Ornithine transcarbamylase deficiency (OTCD) is most common among urea cycle disorders (UCDs), defined by defects in enzymes associated with ureagenesis.
Koji Imoto, Masatake Tanaka, Takeshi Goya, Tomomi Aoyagi, Motoi Takahashi, Miho Kurokawa, Shigeki Tashiro, Masaki Kato, Motoyuki Kohjima, Yoshihiro Ogawa   +9 more
doaj   +1 more source

Ornithine Transcarbamylase Deficiency in Iranian Children [PDF]

Iranian Journal of Public Health, 2003
Ammonia is a toxic material for mammalians. It is detoxificated and converted to urea in the urea cycle in liver. Each defect in the urea cycle cause increase in blood ammonia level.
HR Joshaghani, M Jalali, T Zaman
doaj   +2 more sources

Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry.

, 2021
Background: Orotic acid (OA) is the key parameter in the detection of ornithine transcarbamylase deficiency (OTC-D).
Sander, Johannes, Peter, Michael, Terhardt, Michael, Gokcay, Gülden Fatma, Demirkol, Mubeccel, Luecke, Thomas, Das, Anibh M., Janzen, Nils, Sander, Stefanie   +8 more
core   +1 more source