Results 1 to 10 of about 23,457 (249)

Proof-of-Concept Gene Editing for the Murine Model of Inducible Arginase-1 Deficiency

Scientific Reports, 2017
Arginase-1 deficiency in humans is a rare genetic disorder of metabolism resulting from a loss of arginase-1, leading to impaired ureagenesis, hyperargininemia and neurological deficits. Previously, we generated a tamoxifen-inducible arginase-1 deficient
Yuan Yan Sin, Phillipe R. Price, Laurel L. Ballantyne, Colin D. Funk   +3 more
doaj   +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

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

BMC Research Notes, 2010
Background Argininosuccinic aciduria (ASAuria) is an autosomal recessive disorder of the urea cycle relatively common in Saudi Arabia as a consequence of extensive consanguinity.
Rashed Mohamed S, Alsmadi Osama, Al-Mubarak Bashair R, Trabzuni Danyah, Al-Sayed Moeen, Imtiaz Faiqa, Meyer Brian F   +6 more
doaj   +1 more source

Ammonia storm: unmasking a suspected rare proximal urea cycle disorder in adulthood

BMC Neurology
Background Hyperammonaemia is a medical emergency which is mostly associated with liver dysfunction. However, in the absence of hepatic disease, rare inborn errors of metabolism such as urea cycle disorders (UCDs) must be considered. While UCDs typically
Vikram Vikhe, Md. Hassan Shaik, Priya Khaire, Rahul Patil, Ahanaa Chakraborty   +4 more
doaj   +1 more source

Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report

Journal of Medical Case Reports, 2018
Background Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a rare inherited urea cycle disorder, can remain undiagnosed for decades and suddenly turn into an acute life-threatening state.
Thomas Silfverberg, Fredrik Sahlander, Magnus Enlund, Mikael Oscarson, Maria Hårdstedt   +4 more
doaj   +1 more source

Hyperammonemia Encephalopathy due to Urea Cycle Disorder Precipitated by Gastrointestinal Bleed in the Setting of Prior Bariatric Surgery. [PDF]

ACG Case Rep J, 2023
Loeffler J, Elfiky A, Al Moussawi H, Ravindran N.   +3 more
europepmc   +1 more source

Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control

Molecular Therapy: Nucleic Acids
Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea-cycle disorder, results in hyperammonemia initiating a sequence of adverse events that can lead to coma and death if not treated rapidly.
Taryn Diep, Wesley Zhou, Rachel E. Reyes, Matthew Nitzahn, Isabel L. Day, Georgios Makris, Lindsay Lueptow, Irina Zhuravka, Stuti Bakshi, Jon Gangoiti, Hyacinth Padaon, Yunfeng Li, Bruce A. Barshop, Johannes Haberle, Gerald S. Lipshutz   +14 more
doaj   +1 more source

Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity

Annals of Indian Academy of Neurology, 2016
Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures.
Boby Varkey Maramattom, Rajat Raja, Anuroop Balagopal   +2 more
doaj   +1 more source

Fatal Encephalopathy Caused by a Urea Cycle Disorder. [PDF]

J Clin Neurol, 2021
Park SH, Lee JH, Choi SJ, Kim HS, Kim NH.   +4 more
europepmc   +1 more source

Treatment and management for children with urea cycle disorder in chronic stage. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban, 2023
Huang X.
europepmc   +1 more source