Results 11 to 20 of about 415 (137)

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency. [PDF]

J Inherit Metab Dis, 2021
Abstract Hyperargininemia in patients with arginase 1 deficiency (ARG1‐D) is considered a key driver of disease manifestations, including spasticity, developmental delay, and seizures. Pegzilarginase (AEB1102) is an investigational enzyme therapy which is being developed as a novel arginine lowering approach.
Diaz GA, Schulze A, McNutt MC, Leão-Teles E, Merritt JL, Enns GM, Batzios S, Bannick A, Zori RT, Sloan LS, Potts SL, Bubb G, Quinn AG.   +12 more
europepmc   +3 more sources

Hyperargininemia presenting as intermittent ataxia and cerebellar atrophy [PDF]

Annals of Indian Academy of Neurology, 2020
Leema P Cornelius, Vivekasaravanan Raju, Asir Julin   +2 more
doaj   +4 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

Neuroimaging findings in hyperargininemia [PDF]

Journal of Neuroimaging, 2008
ABSTRACTIn hyperarginenemia, there is a defect in argininase enzyme, which is a catalyzer of urea cycle. Though the pathogenesis of neuronal damage in hyperargininemia is not clear, high serum and cerebrospinal fluid arginine levels can be directly related with neuronal damage.
Yılmaz Tabel, Alpay Alkan, Akinci, Aysehan, Tabel, Yılmaz, Ayşehan Akıncı, Akıncı, Ayşehan, Alkan, Alpay, Fırat, Ahmet Kemal, Serdal Güngör, Ahmet Kemal Fırat, Gungor, Serdal, Firat, Ahmet Kemal, Tabel, Yilmaz, Alkan, Alper   +13 more
core   +3 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   +2 more sources

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland. [PDF]

J Inherit Metab Dis
ABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare urea cycle disorder characterized by progressive spastic paraplegia, developmental delay, epilepsy, and episodic hyperammonemia. Evidence on prevalence and clinical presentation is scarce. Therefore, epidemiology and the phenotypical spectrum were assessed in Germany, Austria, and Switzerland ...
Scharre S, Hess AL, Gleich F, Garbade SF, Feyh P, Karall D, Baghdasaryan A, Huemer M, Hennermann JB, Hahn A, Lindner M, Gramer G, Luecke T, Kleinelanghorst N, Haeberle J, Lotz-Havla AS, Hoffmann GF, Okun JG, Muetze U, Kölker S.   +19 more
europepmc   +2 more sources

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris. [PDF]

J Inherit Metab Dis
ABSTRACT Arginase 1 deficiency (ARG1D) is the least common urea cycle disorder. Neonatal onset is rarely described, and hyperammonemic coma is less common in patients with ARG1D compared to other urea cycle disorders. In recent years, we diagnosed a high number of ARG1D patients in Mayotte, an insular (Comoro Islands) department of France.
De Bruyne A, Imbard A, Roux CJ, Chamouine A, Schwab C, Brassier A, Arnoux JB, Bouchereau J, Laroche-Raynaud C, Mekdade T, Gaschignard M, Berat CM, Pontoizeau C, Gobin-Limballe S, de Lonlay P, Benoist JF, Schiff M.   +16 more
europepmc   +2 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   +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

Administration of L-citrulline prevents Plasmodium growth by inhibiting/ modulating T-regulatory cells during malaria pathogenesis

Journal of Vector Borne Diseases, 2022
Background & objectives: Malaria affects around 228 million people all over the globe. Malaria causing parasite Plasmodium infection leads to activation of immune responses. The growth of parasite and immune activation requires semi essential amino acids
Vikky Awasthi, Rubika Chauhan, Jyoti Das
doaj   +2 more sources