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Sachs disease

DEFINITIONS OF: Sachs disease

1

n 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

Synonyms:
Tay-Sachs, Tay-Sachs disease, infantile amaurotic idiocy
Type of:
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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