Aggressive therapy improves cirrhosis in glycogen storage disease type IX

Laurie A. Tsilianidis, Laurie M. Fiske, Sara Siegel, Chris Lumpkin, Kate Hoyt, Melissa Wasserstein, David A. Weinstein

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

Glycogen storage disease type IX (GSD IX) is described as a benign condition that often does not require treatment. Most patients with the disease are thought to outgrow the childhood manifestations, which include hepatomegaly, poor growth, and ketosis with or without hypoglycemia. Long term complications including fibrosis and cirrhosis have seldom been reported in the most common subtype, GSD IXα. We present two cases of children with GSD IXα who had fibrosis at the time of diagnosis in addition to the commonly reported disease manifestations. Structured therapy with frequent doses of uncooked cornstarch and protein supplementation was initiated, and both children responded with improved growth velocity, increased energy, decreased hepatomegaly and improved well-being. Additionally, radiographic features of fibrosis improved. We propose that GSD IXα is not a benign condition. Even in patients with a less severe presentation, consideration of a structured treatment regimen to improve quality of life appears warranted.

Original languageEnglish (US)
Pages (from-to)179-182
Number of pages4
JournalMolecular Genetics and Metabolism
Volume109
Issue number2
DOIs
StatePublished - Jun 1 2013
Externally publishedYes

Keywords

  • Cirrhosis
  • GSD
  • Glycogen storage disease type IX
  • PhK
  • Treatment
  • XLG

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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    Tsilianidis, L. A., Fiske, L. M., Siegel, S., Lumpkin, C., Hoyt, K., Wasserstein, M., & Weinstein, D. A. (2013). Aggressive therapy improves cirrhosis in glycogen storage disease type IX. Molecular Genetics and Metabolism, 109(2), 179-182. https://doi.org/10.1016/j.ymgme.2013.03.009