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Journal of Molecular Medicine, 2015 Arginase-1 (ARG1) deficiency is a rare autosomal recessive disorder that affects the liver-based urea cycle, leading to impaired ureagenesis. This genetic disorder is caused by 40+ mutations found fairly uniformly spread throughout the ARG1 gene, resulting in partial or complete loss of enzyme function, which catalyzes the hydrolysis of arginine to ...
Yuan Yan, Sin +3 more
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Indian Journal of Pediatrics, 1997
Hyperargininemia due to arginase deficiency is a rare, inherited, urea cycle disorder. We report a case of arginase deficiency in a 5-year old boy presenting with mild hyperammonemia, hyperargininemia, and dibasic aminoaciduria.
Rita Christopher +2 more
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Hyperargininemia due to arginase deficiency is a rare, inherited, urea cycle disorder. We report a case of arginase deficiency in a 5-year old boy presenting with mild hyperammonemia, hyperargininemia, and dibasic aminoaciduria.
Rita Christopher +2 more
exaly +3 more sources
Hyperargininemia Due to Liver Arginase Deficiency
Molecular Genetics and Metabolism, 2005The urea cycle is a series of six reactions necessary to rid the body of the nitrogen generated by the metabolism, primarily of amino acids, from the diet or released as the result of endogenous protein catabolism. Arginase is the sixth and final enzyme of this cycle.
Stephen Cederbaum, Eric A Crombez
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Recurrent Unexplained Hyperammonemia in an Adolescent With Arginase Deficiency
Clinical Biochemistry, 2012This report investigates the etiology of recurrent episodic elevations in plasma ammonia in an adolescent male with arginase deficiency as there were concerns regarding pre-analytical and analytical perturbations of ammonia measurements. There were repeated discrepancies between the magnitude of his ammonia levels and the severity of his clinical signs
Gerard Berry +2 more
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Argininæmia With Arginase Deficiency
Lancet, The, 1969A Lowenthal, M van Sande
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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
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The human arginases and arginase deficiency
Journal of Inherited Metabolic Disease, 1998AbstractArginase is the final enzyme in the urea cycle. Its deficiency is the least frequently described disorder of this cycle. It results primarily in elevated blood arginine, and less frequently in either persistent or acute elevations in blood ammonia.
R, Iyer +5 more
openaire +2 more sources