Results 71 to 80 of about 467,750 (151)

The Role of Urea Cycle Functional Studies in Preclinical Research

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Inborn errors of metabolism affecting the urea cycle are rare severe conditions caused by impaired nitrogen detoxification, leading to hyperammonemia and neurological morbidity across a broad clinical spectrum. Current biochemical diagnostics largely rely on quantification of metabolites. While indispensable for diagnosis and acute management,
Nathan Breuillard, Nadia Zürcher, Erica Faccin, Kim L. Stocker, Martin Poms, Johannes Häberle   +5 more
wiley   +1 more source

Long‐Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch‐Over and 12‐Month Extension Study

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Sodium phenylbutyrate (NaPBA) is used for nitrogen scavenging in urea cycle disorders (UCDs), but its volume, palatability, and sodium load affect adherence and ammonia control. Glycerol phenylbutyrate (GPB) offers an alternative option with demonstrated improvements in metabolic control and palatability.
Yoichi Wada, Mahoko Furujo, Kenichi Kashimada, Takashi Hamazaki, Hiromi Nyuzuki, Keiko Ichimoto, Toshihiko Kakiuchi, Shirou Matsumoto, Yoriko Watanabe, Chiho Ono, Takako Shimizu, Hiroiku Furukawa, Kimitoshi Nakamura   +12 more
wiley   +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

Amino Acid and Enzyme Assay in Ornithine Transcarbamylase Deficiency

, 1992
Ornithine transcarbamylase(OTC) deficiency is the most comon genetic enzyme deficiency in the cycle enzymopathy and is inherited as a sex-linked dominant mode. All of the urea cycle enzymopathies may results in the accumulation of ammonia in serum.
문형남, 심정연, 홍창의, 홍수종, 김기수   +4 more
core   +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   +1 more source

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

Orphanet Journal of Rare Diseases, 2020
Background This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential correlation with phenotype ...
Deyun Lu, Feng Han, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Lili Liang, Yu Wang, Wenjun Ji, Xia Zhan, Xuefan Gu, Lianshu Han   +10 more
doaj   +1 more source

Chronic and Variable Manifestations of Ornithine Transcarbamylase Deficiency in Heterozygous Carriers: A Case Series of Three Colombian Patients

Journal of Inborn Errors of Metabolism and Screening
Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder with an estimated prevalence ranging from 1 in 56,500 to 1 in 113,000 live births.
Ana María Zarante-Bahamón, Jenniffer A. Romero-Morales, Jorge Luis Ramón-Gómez   +2 more
doaj   +1 more source

Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration

Case Reports in Neurological Medicine, 2015
Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked disorder of urea synthesis leading to hyperammonemia. Several late-onset cases have been reported.
Jordi Gascon-Bayarri, Jaume Campdelacreu, Jordi Estela, Ramon Reñé   +3 more
doaj   +1 more source

Zinc supplementation reduces blood ammonia and increases liver ornithine transcarbamylase activity in experimental cirrhosis

, 1992
Zinc deficiency is common in cirrhosis and may be involved in the alteration of ammonia metabolism. Rats with carbon tetrachloride-induced cirrhosis have high plasma ammonia and low serum and tissue zinc levels.
Renzo Moretti, Livio Capocaccia, FRANCHITTO, Antonio, MERLI, Manuela, Alfredo Cantafora, Giorgio Pinto, Angelo Zullo, GAUDIO, EUGENIO, Massimo Caschera, Roberta Spagnoli, RIGGIO, Oliviero, Siro Seri, Elvira D'Aquilino   +12 more
core   +1 more source

Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy [PDF]

, 1995
Ornithine transcarbamylase (OTC) deficiency is an X chromosome-linked disorder causing hyperammonemic encephalopathy with a very poor prognosis. We describe here two patients with OTC deficiency, one a late-onset female patient (case 1) and the other a ...
Todo, S, Finegold, DN, Nour, B, Reyes, J, Starzl, TE, Tzakis, AG, Hasegawa, T   +6 more
core   +1 more source