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Prevalence and Incidence of N-acetyl glutamate synthetase deficiency

Prevalance of N-acetyl glutamate synthetase deficiency:

only a few cases of N-acetylglutamate synthase deficiency have been reported worldwide, Genetics Home Reference website ... see also overview of N-acetyl glutamate synthetase deficiency.

N-acetyl glutamate synthetase deficiency: Rare Disease

N-acetyl glutamate synthetase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that N-acetyl glutamate synthetase deficiency, or a subtype of N-acetyl glutamate synthetase deficiency, affects less than 200,000 people in the US population.

Ophanet, who are a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list N-acetyl glutamate synthetase deficiency as a "rare disease". More information about N-acetyl glutamate synthetase deficiency is available from Orphanet

About prevalence and incidence statistics:

The term 'prevalence' of N-acetyl glutamate synthetase deficiency usually refers to the estimated population of people who are managing N-acetyl glutamate synthetase deficiency at any given time. The term 'incidence' of N-acetyl glutamate synthetase deficiency refers to the annual diagnosis rate, or the number of new cases of N-acetyl glutamate synthetase deficiency diagnosed each year. Hence, these two statistics types can differ: a short-lived disease like flu can have high annual incidence but low prevalence, but a life-long disease like diabetes has a low annual incidence but high prevalence. For more information see about prevalence and incidence statistics.

 

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