Plasma Arginine Levels in Arginase Deficiency in the “Real World” [PDF]
Molecular Genetics and Metabolism ReportsDeficiency of arginase-1, the final enzyme in the urea cycle, causes a distinct clinical syndrome and is characterized biochemically by a high level of plasma arginine. While conventional therapy for urea cycle disorders can lower these levels to some extent, it does not normalize them. Until now, research on plasma arginine levels in this disorder has
Judy Z Louie
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Clinical Status, Biochemical Profile and Management of a Single Cohort of Patients With Arginase Deficiency [PDF]
JIMD Reports, 2022 Arginase deficiency is a rare autosomal recessive urea cycle disorder (UCD) caused by mutations in the ARG1 gene encoding arginase that catalyses the hydrolysis of arginine to ornithine and urea.
Nandaki Keshavan +2 more
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Phenotypic Pleiotropy in Arginase Deficiency: A Single Center Cohort. [PDF]
Ann Indian Acad Neurol, 2022 Background: Arginase deficiency is considered a masquerader of diplegic cerebral palsy. The rarity of hyperammonemic crisis and the slowly progressive course has made it a unique entity among the urea cycle defects. Objectives: The aim of our study is to describe the varied ...
Bharathi NK +5 more
europepmc +5 more sources
Arginase Deficiency Presenting as Acute Encephalopathy.
J Pediatr Neurosci, 2019 Urea cycle disorders are rare metabolic disorders that present as encephalopathy with hyperammonemia. Arginase deficiency causing hyperargininemia is one among the urea cycle disorders, which usually presents as spastic diplegia. Hyperammonemic encephalopathy is rare in arginase deficiency.
Cornelius LP, Raju V, Julin A.
europepmc +6 more sources
Intermittent Lipid Nanoparticle mRNA Administration Prevents Cortical Dysmyelination Associated With Arginase Deficiency [PDF]
Molecular Therapy - Nucleic Acids, 2022 Arginase deficiency is associated with prominent neuromotor features, including spastic diplegia, clonus, and hyperreflexia; intellectual disability and progressive neurological decline are other signs.
Gerald S Lipshutz +2 more
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Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. [PDF]
Hum Mol Genet, 2015 Arginase deficiency is caused by deficiency of arginase 1 (ARG1), a urea cycle enzyme that converts arginine to ornithine. Clinical features of arginase deficiency include elevated plasma arginine levels, spastic diplegia, intellectual disability, seizures and growth deficiency.
Burrage LC +12 more
europepmc +5 more sources
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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Hyperargininemia with Arginase Deficiency [PDF]
Pediatric Research, 1979 Summary: A female and a male sibling aged 15 and 8 yr developed almost normally for 3 yr, then gradually deteriorated intellectually and physically. Both patients showed marked hyperargininuria (up to 370 times normal), prominent lysinuria, cystinuria, and ornithinuria, and a milder generalized amino aciduria.
S D, Cederbaum +5 more
openaire +2 more sources
Pegzilarginase in Arginase 1 Deficiency: Clinical and Biochemical Effects of Treatment Initiation, Discontinuation and Re-Initiation [PDF]
ChildrenSerena Gasperini +2 more
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