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Sachs disease

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Noun1.Sachs disease - a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body


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Specifically, the company purportedly said that the devices could detect multiple mutations related to the clinical diagnosis of, for example, cystic fibrosis, Tay Sachs disease and the risk of venous thromboemholism.
Population-based carrier screening (PBCS) for genetic diseases began in the United States with a pilot program for Hexoseaminidase A (HexA) deficiency, also known as Tay Sachs disease (TSD) in Ashkenazi Jewish (AJ) populations in Baltimore, MD, and Washington, DC, in 1970.
 
 
 
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