Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?

Arch Intern Med. 1974 Oct;134(4):627-34. doi: 10.1001/archinte.134.4.627.
No abstract available

MeSH terms

  • Adult
  • Cerebellar Ataxia / complications*
  • Epilepsy / complications*
  • Galactosidases / deficiency*
  • Galactosidases / metabolism
  • Glucosidases / metabolism
  • Glycosaminoglycans / urine
  • Humans
  • Hydrogen-Ion Concentration
  • Kidney / enzymology
  • Leukocytes / enzymology
  • Lipidoses / classification
  • Liver / analysis
  • Liver / enzymology
  • Liver / ultrastructure
  • Lumbar Vertebrae / abnormalities
  • Macula Lutea / pathology*
  • Male
  • Microscopy, Electron
  • Myoclonus / complications*
  • Neurologic Examination
  • Phospholipids / analysis
  • Rectum / ultrastructure
  • Sphingolipidoses / enzymology
  • Sphingolipidoses / etiology*
  • Sphingolipidoses / pathology
  • Sphingolipids / analysis

Substances

  • Glycosaminoglycans
  • Phospholipids
  • Sphingolipids
  • Galactosidases
  • Glucosidases