Current Status of Surviving Patients With Arginase 1 Deficiency in Japan [PDF]
Molecular Genetics and Metabolism Reports, 2021 Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD), with an estimated frequency of 1 per 2,200,000 births in Japan. Patients with ARG1 deficiency develop symptoms in late infancy or pre-school age with progressive neurological ...
Kimitoshi Nakamura +2 more
exaly +4 more sources
Pegzilarginase in Arginase 1 Deficiency: Clinical and Biochemical Effects of Treatment Initiation, Discontinuation and Re-Initiation [PDF]
ChildrenBackground: Arginase 1 deficiency (ARG1-D) is an ultra-rare urea cycle disorder characterized by hyperargininemia and progressive neurological impairment, including spasticity, loss of motor function, and reduced quality of life.
Serena Gasperini +2 more
exaly +4 more sources
Natural History of Arginase 1 Deficiency and the Unmet Needs of Patients: A Systematic Review of Case Reports [PDF]
JIMD Reports, 2022 Background Arginase 1 deficiency (ARG1‐D) is a rare, progressive and debilitating urea cycle disorder characterized by clinical manifestations including spasticity, seizures, developmental delay, and intellectual disability.
George A Diaz +2 more
exaly +3 more sources
Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children [PDF]
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 +2 more sources
Novel ARG1 variants identified in a patient with arginase 1 deficiency [PDF]
Human Genome Variation, 2021 We report a case of a 13-year-old boy with arginase 1 deficiency carrying a new variant in ARG1. Sanger sequencing identified the compound heterozygous variants: NM_000045.4: c.365G>A (p.Trp122*)/c.820G>A (p.Asp274Asn).
Katsuyuki Yokoi +6 more
doaj +2 more sources
Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence [PDF]
Orphanet Journal of Rare Diseases, 2022 Background/objective Arginase 1 Deficiency (ARG1-D) is a rare inherited metabolic disease with progressive, devastating neurological manifestations with early mortality and high unmet need.
C. Catsburg +3 more
doaj +2 more sources
Anesthetic management of a pediatric patient with arginase-1 deficiency undergoing strabismus operation: a case report [PDF]
JA Clinical Reports, 2019 Background Urea cycle disorders are rare; arginase-1 deficiency is one of those extremely rare autosomal recessive metabolic disorders. Arginase-1 is one among the enzymes involved in the production of urea from ammonia in the liver, and its deficiency ...
Hideya Kato, Ken Kawaguchi, Teiji Sawa
doaj +2 more sources
Strategies to rescue the consequences of inducible arginase-1 deficiency in mice. [PDF]
PLoS ONE, 2015 Arginase-1 catalyzes the conversion of arginine to ornithine and urea, which is the final step of the urea cycle used to remove excess ammonia from the body.
Laurel L Ballantyne +9 more
doaj +2 more sources
Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism. [PDF]
PLoS ONE, 2013 Arginase deficiency is a rare autosomal recessive disorder resulting from a loss of the liver arginase isoform, arginase 1 (ARG1), which is the final step in the urea cycle for detoxifying ammonia. ARG1 deficiency leads to hyperargininemia, characterized
Yuan Yan Sin +6 more
doaj +2 more sources
Arginase-1 deficiency regulates arginine concentrations and NOS2-mediated NO production during endotoxemia. [PDF]
PLoS ONE, 2014 Arginase-1 is an important component of the intricate mechanism regulating arginine availability during immune responses and nitric oxide synthase (NOS) activity.
Karolina A P Wijnands +12 more
doaj +2 more sources