Glycogen branching enzyme deficiency in adult polyglucosan body disease

Ann Neurol. 1993 Jan;33(1):88-93. doi: 10.1002/ana.410330114.


Branching enzyme activity was assayed in muscle, peripheral nerve, and leukocytes from 2 Ashkenazi-Jewish patients with adult polyglucosan body disease and 1 African-American and 3 Caucasian patients with the same clinical and pathological features. Branching enzyme activity was normal in the muscle specimens from both Jewish and non-Jewish patients. However, the activity was markedly decreased not only in the leukocytes from the 2 Jewish patients (confirming previous findings), but also in peripheral nerve specimens, whereas it was normal in nerve tissue and leukocytes from all non-Jewish patients. These data confirm a branching enzyme deficiency in a subgroup of patients with adult polyglucosan body disease, and show that the defect is tissue-specific, suggesting that adult polyglucosan body disease has more than one biochemical basis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 1,4-alpha-Glucan Branching Enzyme / deficiency*
  • Aged
  • Aged, 80 and over
  • Axons / metabolism*
  • Axons / ultrastructure
  • Biopsy
  • Female
  • Glucose / metabolism*
  • Humans
  • Male
  • Middle Aged
  • Muscles / enzymology
  • Muscles / pathology
  • Nervous System Diseases / metabolism*
  • Nervous System Diseases / pathology
  • Polymers / metabolism*
  • Sural Nerve / pathology


  • Polymers
  • 1,4-alpha-Glucan Branching Enzyme
  • Glucose