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About 43 results

ALLMedicine™ Arginase Deficiency Center

Research & Reviews  16 results

A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese p...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7593080
Medicine Cui D, Liu Y et. al.

Aug 10th, 2020 - Arginineemia, also known as arginase deficiency, is a rare autosomal recessive metabolic disease. The diagnosis sometimes may be delayed due to atypical clinical manifestations. Confirmation of arginineemia depends on genetic testing. We reported ...

Arginase Deficiency - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/arg1/

May 28th, 2020 - Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal. Untreated...

Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liv...
https://doi.org/10.1073/pnas.1906182116
Proceedings of the National Academy of Sciences of the Un... Truong B, Allegri G et. al.

Sep 11th, 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 de...

Arginase Deficiency
https://emedicine.medscape.com/article/941838-overview

Jan 7th, 2019 - Background Arginase deficiency is thought to be the least common of the urea cycle disorders. This entity also manifests itself in a fashion somewhat different from other disorders in the group (see Physical). Two separate isozymes of the enzyme a...

Arginase Deficiency 
https://emedicine.medscape.com/article/941838-print

Jan 7th, 2019 - Background Arginase deficiency is thought to be the least common of the urea cycle disorders. This entity also manifests itself in a fashion somewhat different from other disorders in the group (see Physical). Two separate isozymes of the enzyme a...

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News  1 results

Fast Five Quiz: Do You Know Key Signs and Symptoms of Rare Diseases?
https://reference.medscape.com/viewarticle/869223_4

Sep 29th, 2016 - A history of delayed development, seizures, spasticity, and protein intolerance is suggestive of arginase deficiency, a urea cycle disorder that is also known as hyperargininemia. This autosomal recessive genetic disorder leads to the accumulation...

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