Biopsy-Proven Hepatocellular Carcinoma in a 53-Year-Old Woman With Arginase Deficiency
Pediatric and Developmental Pathology, 2017 Arginase 1 deficiency, the least common urea cycle disorder, commonly presents with childhood-onset spastic paraplegia, progressive neurologic impairment, epilepsy, and developmental delay or regression.
Gerald S Lipshutz +2 more
exaly +2 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
exaly +2 more sources
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
exaly +2 more sources
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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
openaire +2 more sources
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
openaire +1 more source
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
openaire +2 more sources
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
Arginase Deficiency—An Unheralded Cause of Developmental Epileptic Encephalopathy
Epileptic Disorders, 2023Soumya Sundaram +2 more
exaly
Arginine: The Key Driver of Pathophysiology and Progression in Arginase 1 Deficiency (P11-12.004)
Neurology, 2022George Diaz +2 more
openaire +1 more source