Progression
A progressively debilitating disease
- Initial 6–12 months from birth often uneventful1,2
- May present with1,2:
- Seizures
- Episodes of mild hyperammonaemia: encephalopathy, irritability, feeding difficulties, poor appetite, nausea/vomiting, decreased alertness
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Spasticity in lower limbs (mainly tip-toe walking)1
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Seizures: usually generalized tonic clonic2Global developmental delay:1,3 delay or developmental milestones
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Spontaneous avoidance of high-protein foods is common1,4,5
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Hepatic pathology: liver fibrosis, acute liver failure7
- Progressive spasticity1
- Variable decline in growth4
- Variable decline in neuromotor and cognitive skills:1,3,5,6
- Loss of gait
- Decrease of vocabulary or loss of spoken language
- Loss of sphincter control
- Potential loss of:
- Ambulation4
- Bowel and bladder control1,7
- Severe intellectual disability with loss of language4,8
- Left untreated, ARG1-D results in variable decline that may result in early mortality1,4,8
- Carvalho DR, et al. Clinical Features and Neurologic Progression of Hyperarginemia. Pediatr Neurol. 2012;46:369–374.
- Scaglia F, Lee B. Clnical, Biochemical, and Molecular Spectrum of Hyperarginemia Due to Arginase I Deficiency. Am J Med Genet C Semin Med Genet. 2006;142:113–120.
- Sun A, et al. Arginase deficiency. 2004 [Updated 2020]. In: Adams MP, et al, eds. GeneReviews®. Seattle, WA: University of Washington, Seattle; 2020.
- Crombez EA, Cederbaum SD. Hyperargininemia due to liver arginase deficiency. Mol Genet Metab. 2005;84:243–251.
- Cai X, et al. Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency. Medicine. 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. 2018;97:e10780.
- Schlune A, et al. Hyperargininemia due to arginase I deficiency: the original patients and their naturalhistory, and a review of the literature. Amino Acids. 2015 Sep;47(9):1751-1762.
- 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.