Results 81 to 90 of about 3,709 (187)

Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1423-1426, June 2026.
Maria Paula Silva, Kirsten Havens, Katherine Arduini, Anne Kozek, Erika Vucko, Joel Charrow, Joshua Baker, Carlos E. Prada   +7 more
wiley   +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

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

Ornithine transcarbamylase deficiency [PDF]

, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop   +3 more
openaire   +2 more sources

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

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

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  

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  

Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity [PDF]

, 2018
Ornithine transcarbamylase deficiency shows X-linked inheritance with partial dominant expression in carrier females. We studied a girl with intermittent severe orotic aciduria and mild hyperammonaemia despite apparently normal enzyme activity in the ...
Wermuth, B., Steiner, F., Schaffner, T., Zurbrügg, R., Wiesmann, U., Vella, S., Schlumbom, V.   +6 more
core  

Ornithine transcarbamylase deficiency [PDF]

, 2011
  +4 more sources