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About 35 results

ALLMedicine™ Arginase Deficiency Center

Research & Reviews  13 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 ...

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...

Biopsy-proven Hepatocellular Carcinoma in a 53-year-old Woman With Arginase Deficiency.
https://doi.org/10.1177/1093526617697058
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
https://rarediseases.info.nih.gov/diseases/5840/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...

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorde...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921309
Journal of Inherited Metabolic Disease; Waisbren SE, Gropman AL et. al.

May 25th, 2016 - The Urea Cycle Disorders Consortium (UCDC) has conducted, beginning in 2006, a longitudinal study (LS) of eight enzyme deficiencies/transporter defects associated with the urea cycle. These include N-acetylglutamate synthase deficiency (NAGSD); Ca...

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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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