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Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence.

Publication ,  Journal Article
Das, BB; Narkewicz, MR; Sokol, RJ; Chen, YT; Bali, D; Li, SC; Matthews, MR; Mierau, GW; Ivy, DD
Published in: Pediatr Transplant
April 2005

We report a 17-month-old female patient with a rare cause of cardiomyopathy secondary to accumulation of amylopectin-like material (fibrillar glycogen) isolated to the heart. Evidence of amylopectinosis isolated to cardiac myocytes in this patient was demonstrated by histology and electron microscopy. Glycogen content, glycogen branching enzyme (GBE) activity, as well as phosphofructokinase enzyme activities measured in liver, skeletal muscle, fibroblasts and ex-transplanted heart tissue were all in the normal to lower normal ranges. Normal skeletal muscle and liver tissue histology and GBE activity, normal GBE activity in skin fibroblasts, plus normal GBE gene sequence in this patient exclude the classical branching enzyme deficiency (type IV GSD). We believe that this is an as yet uncharacterized and novel phenotype of GSD associated with cardiomyopathy, in which there is an imbalance in the regulation of glycogen metabolism limited to the heart.

Duke Scholars

Published In

Pediatr Transplant

DOI

ISSN

1397-3142

Publication Date

April 2005

Volume

9

Issue

2

Start / End Page

261 / 265

Location

Denmark

Related Subject Headings

  • Ventricular Dysfunction, Left
  • Surgery
  • Infant
  • Humans
  • Glycogen Storage Disease Type IV
  • Fibroblasts
  • Female
  • Electrocardiography
  • Cardiomyopathies
  • Amylopectin
 

Citation

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Das, B. B., Narkewicz, M. R., Sokol, R. J., Chen, Y. T., Bali, D., Li, S. C., … Ivy, D. D. (2005). Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence. Pediatr Transplant, 9(2), 261–265. https://doi.org/10.1111/j.1399-3046.2005.00282.x
Das, B. B., M. R. Narkewicz, R. J. Sokol, Y. T. Chen, D. Bali, S. C. Li, M. R. Matthews, G. W. Mierau, and D. D. Ivy. “Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence.Pediatr Transplant 9, no. 2 (April 2005): 261–65. https://doi.org/10.1111/j.1399-3046.2005.00282.x.
Das BB, Narkewicz MR, Sokol RJ, Chen YT, Bali D, Li SC, et al. Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence. Pediatr Transplant. 2005 Apr;9(2):261–5.
Das, B. B., et al. “Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence.Pediatr Transplant, vol. 9, no. 2, Apr. 2005, pp. 261–65. Pubmed, doi:10.1111/j.1399-3046.2005.00282.x.
Das BB, Narkewicz MR, Sokol RJ, Chen YT, Bali D, Li SC, Matthews MR, Mierau GW, Ivy DD. Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence. Pediatr Transplant. 2005 Apr;9(2):261–265.
Journal cover image

Published In

Pediatr Transplant

DOI

ISSN

1397-3142

Publication Date

April 2005

Volume

9

Issue

2

Start / End Page

261 / 265

Location

Denmark

Related Subject Headings

  • Ventricular Dysfunction, Left
  • Surgery
  • Infant
  • Humans
  • Glycogen Storage Disease Type IV
  • Fibroblasts
  • Female
  • Electrocardiography
  • Cardiomyopathies
  • Amylopectin