Results 1 to 10 of about 113,590,771 (217)

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, Yuan Yan Sin, Tim St Amand, Joshua Si, Steven Goossens, Lieven Haenebalcke, Jody J Haigh, Lianna Kyriakopoulou, Andreas Schulze, Colin D Funk   +9 more
doaj   +9 more sources

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 ...
Jun Kido, Shirou Matsumoto, Eiko Takeshita, Chiemi Hayakawa, Keitaro Yamada, Jiro Kagawa, Yoko Nakajima, Tetsuya Ito, Hiroyuki Iijima, Fumio Endo, Kimitoshi Nakamura   +10 more
doaj   +6 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, Laurel L Ballantyne, Kamalika Mukherjee, Tim St Amand, Lianna Kyriakopoulou, Andreas Schulze, Colin D Funk   +6 more
doaj   +8 more sources

Pegzilarginase in Arginase 1 Deficiency: Clinical and Biochemical Effects of Treatment Initiation, Discontinuation and Re-Initiation [PDF]

Children
Background: 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.
Martha Caterina Faraguna, Viola Crescitelli, Roberta Pretese, Maria Valvassori Bolgè, Vera Marchetti, Giusi Sgroi, Stefania Sala, Silvia Gigante, Cristina Bonfanti, Adriana Balduzzi, Serena Gasperini   +10 more
doaj   +6 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.
Aseel Bin Sawad, Arti Pothukuchy, Mark Badeaux, Victoria Hodson, Gillian Bubb, Kristina Lindsley, Jennifer Uyei, George A. Diaz   +7 more
doaj   +5 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, Yoko Nakajima, Toshihiro Yasui, Makoto Yoshino, Tetsushi Yoshikawa, Hiroki Kurahashi, Tetsuya Ito   +6 more
doaj   +5 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, Norashareena Mohamed Shakrin   +1 more
doaj   +4 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, S. Anderson, N. Upadhyaya, M. Bechter   +3 more
doaj   +5 more sources

ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics [PDF]

Genetics in Medicine Open
Purpose: Arginase 1 (ARG1) deficiency manifests with hyperargininemia and progressive neurological impairment. Recent estimates of birth prevalence using allele frequencies of ARG1 variants do not sufficiently distinguish benign from pathogenic variants.
Jessie M. Cameron, Mayowa Azeez Osundiji, Rory J. Olson, Bukola A. Olarewaju, Andreas Schulze   +4 more
doaj   +4 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   +5 more sources