Results 101 to 110 of about 51,297 (232)

The bacterial arginine deiminase system (ADI) facilitates the transport and catabolism of L-arginine.

, 2022
Bacterial ADIs use the antiporter, ArcD, to import L-arginine and export L-ornithine. Once inside the cell, L-arginine is broken down into L-citrulline by arginine deiminase (ArcA), then to L-ornithine by ornithine transcarbamylase (ArcB).
Tessa C. Herbert (12240029), Daniel P. Dulebohn (10164556), Sandra J. Raffel (12240026), Sébastien Bontemps-Gallo (2941824), Frank C. Gherardini (10164565), Crystal L. Richards (10164553)   +5 more
core   +1 more source

Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience:

, 2018
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Hemizygous males with complete deficiency manifest neonatal acute hyperammonemia, while those with part...
L. Laróvere, S. Silvera-Ruiz, J. A. Arranz, R. D. de Kremer   +3 more
semanticscholar   +1 more source

Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency

World Journal of Hepatology, 2017
Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder, with an estimated prevalence of 1 per 80000 live births. Female patients with OTCD develop metabolic crises that are easily provoked by non-predictable common disorders, such as ...
Jun Kido, T. Kawasaki, H. Mitsubuchi, H. Kamohara, T. Ohba, S. Matsumoto, F. Endo, Kimitoshi Nakamura   +7 more
semanticscholar   +1 more source

Ornithine transcarbamylase deficiency: A possible risk factor for thrombosis

, 2009
Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. Thromboembolic complications have not heretofore been linked with this diagnosis.
Lakshmi Venkateswaran, Scaglia, Fernando, Shchelochkov, Oleg A., Karpen, Saul, Hertel, Paula, Mahoney, Donald Jr, Oleg A. Shchelochkov, Donald L. Yee, Mclin, Valérie Anne, Saul Karpen, Fernando Scaglia, Paula Hertel, Donald Mahoney, Valerie McLin, Yee, Donald L., Venkateswaran, Lakshmi   +15 more
core   +1 more source

A Proposed Physiopathological Pathway to Hyperammonemic Encephalopathy in a Non-Cirrhotic Patient with Fibrolamellar Hepatocellular Carcinoma without Ornithine Transcarbamylase (OTC) Mutation

The American journal of case reports, 2017
Patient: Male, 31 Final Diagnosis: Fibrolamellar hepatocellular carcinoma Symptoms: Encephalopathy Medication:— Clinical Procedure: — Specialty: Gastroenterology and Hepatology Objective: Rare disease Background: Hyperammonemic encephalopathy is a ...
R. Surjan, E. S. Dos Santos, T. Basseres, F. Makdissi, M. Machado   +4 more
semanticscholar   +1 more source

Ornithine transcarbamylase deficiency.

Journal of the Formosan Medical Association = Taiwan yi zhi, 1997
Two infants, one male and one female, with elevated serum ammonia levels, were shown, based on urine organic acid analysis and DNA studies, to have ornithine transcarbamylase (OTC) deficiency. OTC deficiency is one of the most common urea cycle disorders. Hyperammonemia occurred at 3 days of age in the male infant, and at approximately 7 days of age in
S J, Yeh, W L, Hou, W S, Tsai, T J, Wu, M, Tuchman, T R, Wang   +5 more
openaire   +1 more source

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

PLoS ONE, 2016
Background Acute liver failure (ALF) has been reported in ornithine transcarbamylase deficiency (OTCD) and other urea cycle disorders (UCD). The frequency of ALF in OTCD is not well-defined and the pathogenesis is not known.
Alexander Laemmle, R. Gallagher, A. Keogh, T. Stricker, M. Gautschi, J. Nuoffer, M. Baumgartner, J. Häberle   +7 more
semanticscholar   +1 more source

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females

, 2021
We describe 10 females with ornithine transcarbamylase (OTC) deficiency and liver dysfunction, revealing a unique pattern of hepatocyte injury in which initial hyperammonemia and coagulopathy is followed by a delayed peak in aminotransferase levels. None
Hardikar, W, Wen, J, Loomes, K, Clarkston, K, Lee, J, Eiroa, H, Prada, CE, Donoghue, S, Oliver, M, Asai, A, Peters, H, Shah, AA   +11 more
core   +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

Valproate-Induced Hyperammonemic Encephalopathy

Pediatric Neurology Briefs, 2006
Valproate-induced hyperammonemic encephalopathy (VHE), predisposing causes, clinical, laboratory, and EEG findings, and therapy are reviewed from the Hospital del Mar, Barcelona, Spain.
J Gordon Millichap
doaj   +1 more source