Skip to main content
Journal cover image

Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein.

Publication ,  Journal Article
Yang, BZ; Stewart, C; Ding, JH; Chen, YT
Published in: Neuromuscul Disord
1991

A 54-yr-old woman who presented with chest pain and elevated serum creatine kinase levels was found to have type III glycogen storage disease. Except for a history of hepatomegaly in childhood, she was healthy and lived a normal life. There was no hypoglycemia, seizure disorder or growth retardation. Muscle weakness was not apparent until the sixth decade. Despite the mild clinical course, debranching enzyme activity was not detectable by biochemical assay, and immunoblot analysis using a polyclonal antibody showed a complete absence of debrancher protein. Thus, mild clinical manifestations in this patient could not be explained by the residual debrancher enzyme and/or activity.

Duke Scholars

Published In

Neuromuscul Disord

DOI

ISSN

0960-8966

Publication Date

1991

Volume

1

Issue

3

Start / End Page

173 / 176

Location

England

Related Subject Headings

  • Neurology & Neurosurgery
  • Muscles
  • Middle Aged
  • Immunoblotting
  • Humans
  • Glycogen Storage Disease Type III
  • Glycogen Debranching Enzyme System
  • Glycogen
  • Female
  • Exercise Test
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Yang, B. Z., Stewart, C., Ding, J. H., & Chen, Y. T. (1991). Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein. Neuromuscul Disord, 1(3), 173–176. https://doi.org/10.1016/0960-8966(91)90021-j
Yang, B. Z., C. Stewart, J. H. Ding, and Y. T. Chen. “Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein.Neuromuscul Disord 1, no. 3 (1991): 173–76. https://doi.org/10.1016/0960-8966(91)90021-j.
Yang BZ, Stewart C, Ding JH, Chen YT. Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein. Neuromuscul Disord. 1991;1(3):173–6.
Yang, B. Z., et al. “Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein.Neuromuscul Disord, vol. 1, no. 3, 1991, pp. 173–76. Pubmed, doi:10.1016/0960-8966(91)90021-j.
Yang BZ, Stewart C, Ding JH, Chen YT. Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein. Neuromuscul Disord. 1991;1(3):173–176.
Journal cover image

Published In

Neuromuscul Disord

DOI

ISSN

0960-8966

Publication Date

1991

Volume

1

Issue

3

Start / End Page

173 / 176

Location

England

Related Subject Headings

  • Neurology & Neurosurgery
  • Muscles
  • Middle Aged
  • Immunoblotting
  • Humans
  • Glycogen Storage Disease Type III
  • Glycogen Debranching Enzyme System
  • Glycogen
  • Female
  • Exercise Test