Late onset GM2 gangliosidosis: an α‐locus genetic compound with near normal hexosaminidase activity

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Abstract
A non‐Jewish child with late onset GM2 gangliosidosis is described. Tissues from the patient had near normal hexosaminidase A (hex A) activity using 4‐methylumbelliferyl‐2‐acetamido‐2‐deoxy‐β‐D‐glucopyranoside (MU‐glcNAc) as substrate, and deficient activity when assayed with the 6‐sulfate derivative of MU‐glcNAc (MU‐glcNAcS) or GM2 in the presence of activator. We present evidence that this patient is a genetic compound for different oc‐subunit mutations. The father's tissues have hex A activity in the heterozygote range when assayed with MU‐glcNAcS, but normal activity using MU‐glcNAc; the mother's tissues have activities toward both substrates in the heterozygote range. These results emphasize the pitfalls of using only MU‐glcNAc for the diagnosis of unusual variants of GM2 gangliosidosis.