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Lipid Nanoparticle-Targeted mRNA Therapy as a Treatment for the Inherited Metabolic Liver Disorder Arginase Deficiency [PDF]
Proceedings of the National Academy of Sciences of the United States of America, 2019 Arginase deficiency is caused by biallelic mutations in arginase 1 (ARG1), the final step of the urea cycle, and results biochemically in hyperargininemia and the presence of guanidino compounds, while it is clinically notable for developmental delays ...
Gerald S Lipshutz +2 more
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Arginase I mRNA Therapy – A Novel Approach to Rescue Arginase 1 Enzyme Deficiency [PDF]
RNA Biology, 2018 Arginase I (ARG1) deficiency is an autosomal recessive urea cycle disorder, caused by deficiency of the enzyme Arginase I, resulting in accumulation of arginine in blood. Current Standard of Care (SOC) for ARG1 deficiency in patients or those having detrimental mutations of ARG1 gene is diet control.
Romesh Subramanian, Christopher Cheng
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Newborn screening for hyperargininemia due to arginase 1 deficiency
Molecular Genetics and Metabolism, 2017Hyperargininemia caused by Arginase 1 deficiency is a rare disorder of the urea cycle that can be diagnosed by elevation of arginine in newborn screening blood spots when analyzed by tandem mass spectrometry. Hyperargininemia is currently included as a secondary target on the U.S.
Bradford L. Therrell +4 more
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Arginase 1 deficiency: a differential for progressive ataxia and intellectual disability
São Paulo Medical Journal, 2023Introduction: Arginase-1 deficiency (OMIM #207800) is a rare autosomal recessive genetic disorder caused by mutations in the ARG1 gene, resulting in partial or complete loss of enzyme function that affects the liver-based urea cycle. Spastic paraparesis with onset in early childhood is the most obvious sign of the disease but other symptoms include ...
Gabriella Corrêa Dousseau +4 more
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Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency
Brain and Development, 2020An adult female patient was diagnosed with arginase 1 deficiency (ARG1-D) at 4 years of age, and had been managed with protein restriction combined with sodium benzoate therapy. Though the treatment was successful in ameliorating hyperammonemia, hyperargininemia persisted.
Mayumi, Matsufuji +7 more
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A&A Practice
We describe the case of a 24-year-old patient with arginase 1 deficiency who underwent a liver transplant for treatment of his disorder. This case is noteworthy as it provides support for a perioperative management strategy described in one other report of a patient with this rare metabolic disorder undergoing a liver transplant. The primary management
James, Cavalcante +2 more
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We describe the case of a 24-year-old patient with arginase 1 deficiency who underwent a liver transplant for treatment of his disorder. This case is noteworthy as it provides support for a perioperative management strategy described in one other report of a patient with this rare metabolic disorder undergoing a liver transplant. The primary management
James, Cavalcante +2 more
openaire +2 more sources
Arginine: The Key Driver of Pathophysiology and Progression in Arginase 1 Deficiency (P11-12.004)
Neurology, 2022George Diaz +2 more
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Arginase Deficiency—An Unheralded Cause of Developmental Epileptic Encephalopathy
Epileptic Disorders, 2023Soumya Sundaram +2 more
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Method and composition for treating arginase 1 deficiency
2023ROWLINSON SCOTT W +3 more
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