Results 31 to 40 of about 51,297 (232)

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

BMJ Case Reports, 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
D. Kazmierski, N. Sharma, K. O'Leary, P. Ochieng   +3 more
semanticscholar   +1 more source

A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation. [PDF]

PLoS ONE, 2015
Ornithine transcarbamylase deficiency (OTCD, OMIM# 311250) is an inherited X-linked urea cycle disorder that is characterized by hyperammonemia and orotic aciduria.
Tatyana N Tarasenko, Odrick R Rosas, Larry N Singh, Kara Kristaponis, Hilary Vernon, Peter J McGuire   +5 more
doaj   +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

Growth, extraction and assay methods for the enzymes ornithine transcarbamylase, aspartate transcarbamylase and carbamyl phosphokinase from Neurospora [PDF]

, 1965
Growth, extraction and assay methods for the enzymes ornithine transcarbamylase, aspartate transcarbamylase and carbamyl phosphokinase from ...
Davis, R. H., R. H. Davis
core   +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

Assays for aspartate and ornithine transcarbamylase by means of the pH-stat [PDF]

, 1965
Assays for aspartate and ornithine transcarbamylase by means of the pH ...
Woodward, V. W., J. M. Hill, Hill, J. M., V. W. Woodward   +3 more
core   +1 more source

Management of late onset urea cycle disorders—a remaining challenge for the intensivist?

Annals of Intensive Care, 2021
Background Hyperammonemia caused by a disorder of the urea cycle is a rare cause of metabolic encephalopathy that may be underdiagnosed by the adult intensivists because of its rarity.
S. Redant, A. Empain, A. Mugisha, P. Kamgang, R. Attou, P. M. Honoré, D. De Bels   +6 more
doaj   +1 more source

A mutation-independent CRISPR-Cas9–mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency

Science Advances, 2020
AAV- and CRISPR-Cas9–mediated gene targeting in neonatal mice led to clinical benefits in a mouse model of OTC deficiency. Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle disorder associated with high mortality. Although a promising
Lili Wang, Yang Yang, Camilo Breton, Peter Bell, Ming-Yao Li, Jia Zhang, Yan Che, A. Saveliev, Zhenning He, John White, Caitlin Latshaw, Chenyu Xu, Deirdre McMenamin, Hong-Wei Yu, H. Morizono, M. Batshaw, James M. Wilson   +16 more
semanticscholar   +1 more source

Metabolic Cause of Hyperkinetic Behavior

Pediatric Neurology Briefs, 2004
An 8-year-old female child with congenital ornithine transcarbamylase deficiency (OTCD) who presented with a hyperkinetic behavior disorder at 3 years is reported from the Medical School Hanover, Germany.
J Gordon Millichap
doaj   +1 more source