About 40 results

ALLMedicine™ Arginase Deficiency Center

Research & Reviews  15 results

A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese p...
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

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...
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...

Biopsy-proven Hepatocellular Carcinoma in a 53-year-old Woman With Arginase Deficiency.
Pediatric and Developmental Pathology : the Official Jour... Koo M, Lipshutz GS et. al.

Dec 1st, 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. Biopsy-proven cirrhosis and hepatocellular ...

Arginase deficiency

Apr 25th, 2017 - Arginase deficiency is an inherited metabolic disease in which the body is unable to process arginine (a building block of protein).[1][2] It belongs to a group of disorders known as urea cycle disorders. These occur when the body's process for re...

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News  1 results

Fast Five Quiz: Do You Know Key Signs and Symptoms of Rare Diseases?

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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