Results 21 to 30 of about 473,606 (232)
A Delayed Presentation of Arginase Deficiency Presenting with Status Epilepticus
Journal of the College of Physicians and Surgeons Pakistan, 2022 Arginase 1(ARG1) deficiency is a rare disorder of the urea cycle. The presentation is usually late, leading to loss of intellectual milestones, spasticity and liver involvement. Hyperammonemic crises are rarely encountered. We herein present a case of a 16-year immigrant girl of Syrian origin who was evaluated for acute onset of fever, vomiting, and ...
Asburce, Olgac +5 more
openaire +3 more sources
Anesthetic Management of a Pediatric Patient with Arginase Deficiency
Balkan Medical Journal, 2011 Arginase deficiency is an autosomal recessive disorder of the urea cycle in which a defect in conversion of arginine to urea and ornithine leads to hyperammonemia. Patients with urea cycle disorders may show increased protein catabolism due to inadequate
Abdulkadir Atım +3 more
doaj +1 more source
Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development. [PDF]
JCI Insight, 2019 Deficiency of arginase is associated with hyperargininemia, and prominent features include spastic diplegia/tetraplegia, clonus, and hyperreflexia; loss of ambulation, intellectual disability and progressive neurological decline are other signs.
Liu XB +9 more
europepmc +2 more sources
Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy. [PDF]
J Neurosci, 2016 UnlabelledArginase 1 deficiency is a urea cycle disorder associated with hyperargininemia, spastic diplegia, loss of ambulation, intellectual disability, and seizures.
Cantero G +6 more
europepmc +2 more sources
Molecular Genetics and Metabolism Reports, 2021 Arginase deficiency is a rare inborn error of metabolism that interrupts the final step of the urea cycle. Untreated individuals often present with episodic hyperammonemia, developmental delay, cognitive impairment, and spasticity in early childhood. The
Yue Huang +14 more
doaj +1 more source
Human hepatocyte transplantation corrects the inherited metabolic liver disorder arginase deficiency in mice. [PDF]
Mol Genet Metab, 2018 The transplantation, engraftment, and expansion of primary hepatocytes have the potential to be an effective therapy for metabolic disorders of the liver including those of nitrogen metabolism.
Angarita SAK +10 more
europepmc +2 more sources
Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin [PDF]
JIMD Rep, 2023 Arginase deficiency (ARG1‐D) is an autosomal recessive inborn error of metabolism that is often misdiagnosed. Classic presentation of ARG1‐D includes progressive symptoms of spasticity, delayed development, cognitive impairment, protein avoidance, and ...
Mills S +7 more
europepmc +2 more sources
Creatine metabolism in patients with urea cycle disorders
Molecular Genetics and Metabolism Reports, 2021 The urea cycle generates arginine that is one of the major precursors for creatine biosynthesis. Here we evaluate levels of creatine and guanidinoacetate (the precursor in the synthesis of creatine) in plasma samples (ns = 207) of patients (np = 73) with
Filippo Ingoglia +3 more
doaj +1 more source
Clinical Pathology, 2022 Objective: Hyperargininemia due to Arginase 1 deficiency is a rare inborn error of the urea cycle with an incidence estimated at 1:950 000. It has typical severe and progressive abnormal neurological features with biochemical findings of hyperargininemia
Anasufiza Habib +1 more
doaj +1 more source
Frontiers in Pharmacology, 2021 Aim: Hepatic ischemia-reperfusion (HIR) induces remote organs injury, including the brain. The homeostasis of the brain is maintained by the blood-brain barrier (BBB); thus, we aimed to investigate whether HIR impaired BBB and attempted to elucidate its ...
Liang Zhu +11 more
doaj +1 more source