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Deficiency of Acetyl Hexosaminidase A

Edward Cotlier, MD

Arch Ophthalmol. 1971;86(3):352-356.

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.

Author Affiliations
Chicago

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

Footnotes
Submitted for publication Oct 20, 1970.

Reprint requests to Illinois Eye and Ear Infirmary, University of Illinois Medical College, Chicago 60680 (Dr. Cotlier).

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