Argininemia

Overview

How common is argininemia?

Argininemia is a rare disorder. Rare disorders often go unrecognized or misdiagnosed and the incidence and prevalence of individual rare disorders is often unclear or unknown. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the amount of new people with a disorder or newly-diagnosed. The incidence of argininemia has been estimated to anywhere from 1 in 300,00 to 1 in 2,000,000 people in the general population. The incidence may vary based on different populations examined. Argininemia is classified as a urea cycle disorders. The incidence of these disorders, collectively, is about 1 in 30,000 people. Argininemia is one of the least common urea cycle disorders.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/argininemia/overview/36483 • DATE UPDATED: 2019-06-17

References

Arginase Deficiency. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/arginase-deficiency

Scaglia F, Lee B. Clinical, Biochemical, and Molecular Spectrum of Hyperargininemia Due to Arginase I Deficiency. Am J Med Genet C Semin Med Genet. 2006; 0(2):113-120.

Wong D, Cederbaum S, Crombez EA. Arginase Deficiency. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1159

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