Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients

Neuropediatrics. 1990 Feb;21(1):18-23. doi: 10.1055/s-2008-1071451.

Abstract

We describe seven patients from five different families with GM2 gangliosidosis, variant B1. To our knowledge these are the first juvenile cases reported in the literature.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Age Factors
  • Biopsy
  • Child
  • Child, Preschool
  • Female
  • Homozygote
  • Humans
  • Male
  • Skin / pathology
  • Tay-Sachs Disease / enzymology*
  • Tay-Sachs Disease / pathology
  • beta-Galactosidase / metabolism
  • beta-N-Acetylhexosaminidases / deficiency*

Substances

  • beta-Galactosidase
  • beta-N-Acetylhexosaminidases