Enzyme replacement in Tay‐Sachs disease

• DOI: 10.1212/wnl.29.6.848
• Publication Date: 2012-05-13T12:12:41Z
• Authors: B. U. von Specht; B. Geiger; R. Arnon; J. Passwell; G. Keren; B. Goldman; B. Padeh
• Keywords: Tay-Sachs disease; Hexosaminidase; Gangliosidosis

Enzyme replacement therapy was attempted with two Tay-Sachs-diseased individuals—a 14- month-old child and a 7-week-old infant. Treatment consisted of repeated weekly intrathecal injections pure hexosaminidase A. Injection this enzyme resulted in almost complete disappearance GM2 from the serum, but did not bring about dissolution membranous cytoplasmic bodies brain, as detected by electronmicroscopy. Both patients tolerated treatment without apparent clinical complications, no clear-cut improvement noted result prolonged Since initiated both an advanced stage very early disease, we conclude that route is beneficial for Tay-Sachs disease.