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

Joel Charrow*, Koji Inui, David A. Wenger

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)78-84
Number of pages7
JournalClinical Genetics
Issue number1
StatePublished - Jan 1985


  • Allelic compound
  • G gangliosidosis
  • variant Tay‐Sachs disease
  • β‐hexosaminidase A deficiency

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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