Abstract
SUMMARYA previously reported case of juvenile G<sub>M2</sub>-gangliosidosis was reinvestigated enzymatically with cellulose acetate electrophoresis. There was a partial deficiency of hexosaminidase component A, in contrast to the complete absence of this component in classical infantile G<sub>M2</sub>-gangliosidosis (Tay-Sachs disease) and to the complete loss of both components A and B in a case of total hexosaminidase deficiency. Juvenile G<sub>M2</sub>-gangliosidosis, therefore, may be tentatively characterized as partial hexosaminidase A deficiency, although this partial deficiency may be the result of complete deficiency of one or more specific subcomponents not yet identified within “component A” of hexosaminidase.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
