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Prevalence and Incidence of Maple syrup urine disease

Prevalance of Maple syrup urine disease:

estimated 1 per 385 infants suffer from maple syrup urine disease in the Old Order Mennonite population, Genetics Home Reference website ... see also overview of Maple syrup urine disease.

Prevalance Rate:

approx 1 in 384 or 0.26% or 706,493 people in USA [Source statistic for calcuation: "estimated 1 per 385 infants suffer from maple syrup urine disease in the Old Order Mennonite population, Genetics Home Reference website" -- see also general information about data sources]

Maple syrup urine disease: Rare Disease

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

Prevalance of Maple syrup urine disease:

The Mennonite community of Lancaster County, Pennsylvania is particularly afflicted by MSUD, with over 1 of 176 individuals affected. This is due to a high carrier rate of a mutation in the E1alpha-subunit of the BCKDH complex. By contrast, the disease is rare in the general population. (Source: Genes and Disease by the National Center for Biotechnology)

About prevalence and incidence statistics:

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