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Article
September 1971

Tay-Sachs' RetinaDeficiency of Acetyl Hexosaminidase A

Author Affiliations

Chicago
From the Biochemical Laboratories, Department of Ophthalmology and Illinois Eye and Ear Infirmary, University of Illinois Medical College, Chicago.

Arch Ophthalmol. 1971;86(3):352-356. doi:10.1001/archopht.1971.01000010354018
Abstract

Acetyl hexosaminidase A was absent in the retina and optic nerve of an infant with Tay-Sachs disease. Similar deficiencies of acetyl hexosaminidase A were found by starch gel electrophoresis and colorimetric determinations in the spleen, liver, and intestine of this infant. Total acetyl hexosaminidase, B-glucosidase, and B-galactosidase activities did not differ significantly in Tay-Sachs and control tissues. The chemical differential diagnosis of gangliosidosis and other lipidoses with cherry red spot lesions of the retina is presented.

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