Abstract
Arginase deficiency is caused by biallelic pathogenic variants of ARG1 gene. Arginase 1 deficiency results in hepatic accumulation of intracellular arginine and release of excess arginine into the blood, which subsequently accumulates in the brain and cerebrospinal fluid. The neurological complications of the disease appear to be a consequence of the neurotoxic effects of arginine and/or guanidino compounds. Unlike the typical presentation of other urea cycle disorders, most individuals with arginase deficiency show minimal or no symptoms at birth and less severe hyperammonemia. Affected patients appear to have minimal symptoms if treated from birth or early childhood, while untreated individuals may exhibit progressive motor symptoms, intellectual disability, and loss of developmental milestones.
OMIM: #207800
This is a preview of subscription content, log in via an institution to check access.
References
Bin Sawad A et al (2022a) Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): a systematic review. Mol Genet Metab 137:153–163. https://doi.org/10.1016/j.ymgme.2022.08.005
Bin Sawad A et al (2022b) Natural history of arginase 1 deficiency and the unmet needs of patients: a systematic review of case reports. JIMD Rep 63:330–340. https://doi.org/10.1002/jmd2.12283
Deignan JL, De Deyn PP, Cederbaum SD, Fuchshuber A, Roth B, Gsell W, Marescau B (2010) Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia. Mol Genet Metab 100 Suppl 1:S31–S36. https://doi.org/10.1016/j.ymgme.2010.01.012
Diaz GA, Bechter M, Cederbaum SD (2023) The role and control of arginine levels in arginase 1 deficiency. J Inherit Metab Dis 46:3–14. https://doi.org/10.1002/jimd.12564
Diaz GA et al (2021) Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency. J Inherit Metab Dis 44:847–856. https://doi.org/10.1002/jimd.12343
Diez-Fernandez C, Rüfenacht V, Gemperle C, Fingerhut R, Häberle J (2018) Mutations and common variants in the human arginase 1 (ARG1) gene: impact on patients, diagnostics, and protein structure considerations. Hum Mutat 39:1029–1050. https://doi.org/10.1002/humu.23545
Güngör S, Akinci A, Firat AK, Tabel Y, Alkan A (2008) Neuroimaging findings in hyperargininemia. J Neuroimaging 18:457–462. https://doi.org/10.1111/j.1552-6569.2007.00217.x
Häberle J et al (2019) Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision. J Inherit Metab Dis 42:1192–1230. https://doi.org/10.1002/jimd.12100
Kido J et al (2021) Physical, cognitive, and social status of patients with urea cycle disorders in Japan. Mol Genet Metab Rep 27:100724. https://doi.org/10.1016/j.ymgmr.2021.100724
McNutt MC, Foreman N, Gotway G (2023) Arginase 1 deficiency in patients initially diagnosed with hereditary spastic paraplegia. Mov Disord Clin Pract 10:109–114. https://doi.org/10.1002/mdc3.13612
Scholl-Bürgi S et al (2008) Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. J Inherit Metab Dis 31(Suppl 2):S323–S328. https://doi.org/10.1007/s10545-008-0903-0
Sin YY, Baron G, Schulze A, Funk CD (2015) Arginase-1 deficiency. J Mol Med (Berl) 93:1287–1296. https://doi.org/10.1007/s00109-015-1354-3
Sun A, Crombez EA, Wong D (2004 [Updated 2020 May 28]) Arginase deficiency. In: Adam MP et al. (eds) GeneReviews® [Internet]. University of Washington, Seattle; 1993-2023, Seattle (WA)
Terheggen H, Schwenk A, Lowenthal A, Van Sande M, Colombo J (1969) Argininaemia with arginase deficiency. Lancet 2:748–749
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2023 Springer Nature Switzerland AG
About this entry
Cite this entry
Indika, NL.R., Senarathne, U.D., Schulze, A. (2023). Arginase Deficiency. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_1328-1
Download citation
DOI: https://doi.org/10.1007/978-3-319-66816-1_1328-1
Received:
Accepted:
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-66816-1
Online ISBN: 978-3-319-66816-1
eBook Packages: Springer Reference MedicineReference Module Medicine