Key symptoms of ARG1-D
The clinical presentation of ARG1-D is heterogeneous1-5
Manifestations typically start in childhood, although symptoms can appear later in life due to accumulating levels of plasma arginine1
Initial onset is typically confined to the lower limbs; however, as spasticity worsens, the upper limbs can also become affected1
Persistent high plasma levels of arginine and arginine-related metabolites increase the risk of significant morbidity and early mortality1,2,6-10
Symptoms often mimic other neurologic and neurometabolic disorders, leading to misdiagnosis1-11
*Hyperammonaemia is not a hallmark of ARG1-D and acute episodes of hyperammonaemia occur infrequently3-5
- Carvalho DR, et al. Clinical Features and Neurologic Progression of Hyperarginemia. Pediatr Neurol. 2012;46:369-374.
- Crombez EA, Cederbaum SD. . Hyperargininemia due to liver arginase deficiency. Mol Genet Metab. 2005;84:243-251.
- Sin YY, et al. Arginase-1 deficiency. J Mol Med (Berl). 2015;93:1287-1296.
- Cai X, et al. Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency .Medicine (Baltimore). 2018;97:e9880.
- Bakhiet M, et al. A case report of neurlogical complications owning to lately diagnosed hyperargininemia emphasizing the role of national neonatal screening policies in the kingdom of Bahrain Medicine (Baltimore). 2018;97:e10780.
- Diez-Fernandez C, et al. Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations. Hum Mutat. 2018;39:1029-1050.
- Häberle J, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019;1–39.
- De Deyn PP, et al. Hyperargininemia: a treatable inborn error of metabolism. In: Guanidino Compounds in Biology and Medicine. London, UK: John Libbey Company Ltd; 1997:53-69.
- Sun A, et al. Arginase deficiency. In: Adams MP, et al, eds. GeneReviews®. Seattle, WA: University of Washington, Seattle; 2020.
- Diaz GA, et al. Poster presented at: 13th European Paediatric Neurology Society (EPNS) Congress; September 17-21, 2019; Athens, Greece. Poster P06-34.
- Prasad A, et al. Argininemia: A Treatable Genetic Cause of Progressive Spastic Diplegia Simulating Cerebral Palsy: Case Reports and Literature Review. J Child Neurol. 1997;12:301-309.