The role and control of arginine levels in arginase 1 deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12564
Abstract: Arginase 1 Deficiency (ARG1‐D) is a rare urea cycle disorder that results in persistent hyperargininemia and a distinct, progressive neurologic phenotype involving developmental delay, intellectual disability, and spasticity, predominantly affecting the lower limbs and leading… read more here.
Keywords: arginine levels; urea cycle; arginine; arginase deficiency ... See more keywords
Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13612
Abstract: Arginase 1 Deficiency (ARG1‐D) is a rare autosomal recessive urea cycle disorder (UCD) characterized by pathologic elevation of plasma arginine and debilitating manifestations. Based on clinical commonalities and low disease awareness, ARG1‐D can be diagnosed… read more here.
Keywords: diagnosed hereditary; hereditary spastic; spastic paraplegia; arginase deficiency ... See more keywords
Novel ARG1 variants identified in a patient with arginase 1 deficiency
Sign Up to like & getrecommendations! Published in 2021 at "Human Genome Variation"
DOI: 10.1038/s41439-021-00139-9
Abstract: We report a case of a 13-year - old boy with arginase 1 deficiency carrying a new variant in ARG1 . Sanger sequencing identified the compound heterozygous variants: NM_000045.4: c.365G>A (p.Trp122*)/c.820G>A (p.Asp274Asn). Although not previously… read more here.
Keywords: arginase deficiency; arginase; novel arg1; arg1 variants ... See more keywords
Proof-of-Concept Gene Editing for the Murine Model of Inducible Arginase-1 Deficiency
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DOI: 10.1038/s41598-017-02927-2
Abstract: Arginase-1 deficiency in humans is a rare genetic disorder of metabolism resulting from a loss of arginase-1, leading to impaired ureagenesis, hyperargininemia and neurological deficits. Previously, we generated a tamoxifen-inducible arginase-1 deficient mouse model harboring… read more here.
Keywords: concept gene; arginase; proof concept; inducible arginase ... See more keywords