Results 31 to 40 of about 482,563 (236)

Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review

Frontiers in Genetics, 2022
Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder. Several male patients with OTCD suffer from severe hyperammonemic crisis in the neonatal period, whereas others develop late-onset manifestations, including hyperammonemic coma ...
Jun Kido, Jun Kido, Keishin Sugawara, Takaaki Sawada, Takaaki Sawada, Shirou Matsumoto, Shirou Matsumoto, Kimitoshi Nakamura, Kimitoshi Nakamura   +8 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC

Stem Cell Research, 2020
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 3-day-old boy with 47,XXY and ornithine transcarbamylase deficiency carrying hemizygote mutation (c.663+2T>G (sliping)) in OTC. The iPSCs had original
Xiaomeng Yang, Beibei Yan, Haiyan Zhang, Yanyan Ma, Qi Zhou, Yue Li, Jingyun Guan, Dong Wang, Yi Liu, Zhongtao Gai   +9 more
doaj   +1 more source

AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice. [PDF]

Mol Genet Metab, 2017
Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of the urea cycle. Hemizygous males and heterozygous females may experience life-threatening elevations of ammonia in blood and brain, leading to irreversible cognitive impairment, coma, and death.
Wang L, Bell P, Morizono H, He Z, Pumbo E, Yu H, White J, Batshaw ML, Wilson JM.   +8 more
europepmc   +4 more sources

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

Annals of Clinical and Translational Neurology, 2022
Objective Ornithine transcarbamylase deficiency (OTC‐D) is an X‐linked metabolic disease and the most common urea cycle disorder. Due to high phenotypic heterogeneity, ranging from lethal neonatal hyperammonemic events to moderate symptoms and even ...
Svenja Scharre, Roland Posset, Sven F. Garbade, Florian Gleich, Marie J. Seidl, Ann‐Catrin Druck, Jürgen G. Okun, Andrea L. Gropman, Sandesh C. S. Nagamani, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka, for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group   +12 more
doaj   +1 more source

Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management [PDF]

, 2013
Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. The clinical presentation in female manifesting carriers varies both in onset and severity.
Villavicencio-Lorini, Pablo, Sarah C Grünert, Jörn Sass, Grünert, Sarah, Sass, Jörn Oliver, Schwab, Karl Otfried, Schwab, K Otfried, K Schwab, Grünert, Sarah C, Lehnert, Willy, Willy Lehnert, Pablo Villavicencio-Lorini, Saß, Jörn-Oliver, Bendicht Wermuth, Schwab, K. Otfried, Grünert, Sarah C., Wermuth, Bendicht, Sass, Jörn, Schwab, K   +18 more
core   +2 more sources

Clinical and genetic analysis of five Chinese patients with urea cycle disorders

Molecular Genetics & Genomic Medicine, 2020
Background The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL).
Zhenzhu Zheng, Yiming Lin, Weihua Lin, Lin Zhu, Mengyi Jiang, Wenjun Wang, Qingliu Fu   +6 more
doaj   +1 more source

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

, 2008
BACKGROUND: Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea metabolism that can lead to hyperammonemic crises and orotic aciduria.
Klaus, Vera, Engel, Katharina, Largiadèr, Carlo R, Häberle, Johannes, Nuoffer, Jean-Marc, Tsiakas, Konstantinos, Santer, René, Mühlhausen, Chris, Wermuth, Bendicht, Largiadèr, Carlo Rodolfo   +9 more
core   +1 more source

Valproate-induced fatal acute hyperammonaemia-related encephalopathy in late-onset ornithine transcarbamylase deficiency.

, 2021
Ornithine transcarbamylase (OTC) deficiency is a genetic disorder of the urea cycle characterised by deficiency in the enzyme OTC, resulting in an accumulation of ammonia. Valproic acid (VPA), a commonly used medication in the treatment of neurologic and
Kazmierski, Daniel, Sharma, Nishant, Ochieng, Pius, MD, O\u27Leary, Kelly   +3 more
core   +1 more source

Hyperammonemia: What Urea-lly Need to Know: Case Report of Severe Noncirrhotic Hyperammonemic Encephalopathy and Review of the Literature

Case Reports in Medicine, 2016
Purpose. A 66-year-old man who presented with coma was found to have isolated severe hyperammonemia and diagnosed with a late-onset urea-cycle disorder. He was treated successfully and had full recovery. Methods.
Ruby Upadhyay, Thomas P. Bleck, Katharina M. Busl   +2 more
doaj   +1 more source

Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation

Molecular Genetics and Metabolism Reports, 2023
Ornithine transcarbamylase (OTC) deficiency (OTCD) is an X-linked urea cycle disorder. In females - undergoing random X chromosomal inactivation (XCI) - disease severity depends on the XCI pattern.
Adhuresa Ramosaj, Palak Singhal, André Schaller, Alexander Laemmle   +3 more
doaj   +1 more source