Results 31 to 40 of about 3,709 (187)

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

ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN REYEʼS SYNDROME [PDF]

Pediatric Research, 1975
Hyperammonemia is observed regulary in patients with Reye's Syndrome /RS/, and may be a crucial determinant of the encephalopathy in this often lethal condition. Since ammonia detoxification depends on an intact urea cycle and since patients with inherited defects of a single urea cycle enzyme also demonstrate hyperammonemia, we sought to define the ...
B Francois, F Ricciuti, L E Rosenberg
openaire   +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

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

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

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

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

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

Ornithine Transcarbamylase Deficiency

Donovan K, Vaqar S, Guzman N.
openaire   +2 more sources

Generation of a human induced pluripotent stem cell line (SDQLCHi036-A) from a patient with ornithine transcarbamylase deficiency carrying a deletion involving 3–9 exons of OTC gene

Stem Cell Research, 2021
Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked urea cycle disorder. Maternal OTCD can lead to life-threatening hyperammonemia if untreated.
Jingyun Guan, Beibei Yan, Haiyan Zhang, Chen Liu, Yue Li, Xiaomeng Yang, Zilong Li, Zhongtao Gai, Yi Liu   +8 more
doaj   +1 more source