GM2 Activator deficiency.
Incidence
This form of GM2 gangliosidosis is rare.
Clinical Characteristics
In this condition, there is accumulation of GM2 gangliosides, but the two hexosaminidases A and B are present and normal in those patients. This form of GM2 gangliosidosis is rare. The clinical phenotype is identical to Tay-Sachs disease. Diagnosis is suspected when evaluating a patient suspicious of having Tay-Sachs disease, the assays for hexosaminidases A and B with artificial substrates are normal. This GM2 activator deficiency can be demonstrated in cultured fibroblasts.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Diagnosis is suspected when evaluating a patient suspicious of having Tay-Sachs disease, the assays for hexosaminidases A and B with artificial substrates are normal. This GM2 activator deficiency can be demonstrated in cultured fibroblasts.