Which Autosomal Recessive condition is primarily associated with Eastern European Jews?

Prepare for the NBEO Systemic Disease Exam. Use flashcards and multiple-choice questions to test your knowledge. Each question includes hints and explanations. Enhance your understanding and readiness for the exam.

Tay-Sachs disease is an autosomal recessive disorder that is most notably associated with Eastern European Jewish populations, particularly among Ashkenazi Jews. This condition results from a deficiency of the enzyme hexosaminidase A, leading to the accumulation of GM2 gangliosides in the nerve cells, which is particularly damaging in infants and can lead to severe neurological decline and ultimately death at a young age.

The prevalence of Tay-Sachs in this population is due to a genetic founder effect, where specific mutations become common in a small population and remain prevalent due to limited gene flow from outside groups. Genetic screening programs have been established in high-risk populations to identify carriers of the Tay-Sachs mutation, helping to reduce the incidence of this tragic condition.

Other options are less associated with the specific demographic of Eastern European Jews. For example, phenylketonuria (PKU) is more common in various populations worldwide, sickle cell anemia is primarily associated with African and Mediterranean ancestry, and Stargardt disease, a form of inherited macular degeneration, does not have the same strong association with any specific ethnic group. This context highlights why Tay-Sachs disease is the correct answer in relation to the given population.

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