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Prevalence and Incidence of Beta ketothiolase deficiency

Prevalance of Beta ketothiolase deficiency:

50 - 60 cases of beta-ketothiolase deficiency have been reported worldwide, Genetics Home Reference website ... see also overview of Beta ketothiolase deficiency.

Prevalance Rate:

approx 1 in 5,440,000 or 0.00% or 49 people in USA [Source statistic for calcuation: "50 - 60 cases of beta-ketothiolase deficiency have been reported worldwide, Genetics Home Reference website" -- see also general information about data sources]

Beta ketothiolase deficiency: Rare Disease

Beta ketothiolase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Beta ketothiolase deficiency, or a subtype of Beta ketothiolase 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 Beta ketothiolase deficiency as a "rare disease". More information about Beta ketothiolase deficiency is available from Orphanet

About prevalence and incidence statistics:

The term 'prevalence' of Beta ketothiolase deficiency usually refers to the estimated population of people who are managing Beta ketothiolase deficiency at any given time. The term 'incidence' of Beta ketothiolase deficiency refers to the annual diagnosis rate, or the number of new cases of Beta ketothiolase 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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