infantile GM2 gangliosidosis
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Related to infantile GM2 gangliosidosis: GM1 gangliosidosis
Tay-Sachs dis·ease(tā saks),
a lysosomal storage disease, resulting from hexosaminidase A deficiency. The monosialoganglioside is stored in central and peripheral neuronal cells. Infants present with hyperacusis and irritability, hypotonia, and failure to develop motor skills. Blindness with macular cherry red spots and seizures are evident in the first year. Death occurs within a few years. Autosomal-recessive transmission; found primarily in Jewish people.
Synonym(s): infantile GM2 gangliosidosis
Farlex Partner Medical Dictionary © Farlex 2012
infantile GM2 gangliosidosis(1) GM2-gangliosidosis type I; also known as Tay-Sachs disease, see there.
(2) GM2-gangliosidosis type II; also known as Sandhoff's disease.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Tay,Warren, English physician, 1843-1927.
Tay cherry-red spot - the ophthalmoscopic appearance of the normal choroid beneath the fovea centralis. Synonym(s): cherry-red spot
Tay-Sachs disease - cerebral sphingolipidosis, infantile type. Synonym(s): infantile GM2 gangliosidosis
Medical Eponyms © Farlex 2012