Nomenclature of GM2-gangliosidoses

As a supplement to the recently proposed systematic nomenclature for the genotypes and phenotypes of GM2-gangliosidoses (O'Brien 1978b), it is suggested that guidelines be adopted for the use of eponyms and type designations in connection with this group of sphingolipidoses. The biochemical genetics of the lysosomal beta-hexosaminidase system in man are briefly reviewed, and recommendations are proposed for the use of eponyms and type designations based upon a locus-oriented framework.