GANGLIOSIDOSES

Reviewed herein is a historic survey of the various types of amaurotic idiocy and the biochemical technics of isolation, identification, quantification, structure and metabolism of gangliosides. The clinical, pathologic and biochemical features of two established gangliosidoses, Tay-Sachs disease (TSD) and systemic late infantile amaurotic idiocy, are described in detail. The problem of precise identification and classification of the various gangliosidoses is discussed. It is recommended that until the specific enzymatic defect is established, identification and classification be based upon combined clinical, pathologic and biochemical criteria. © 1969.