Type VI Glycogen Storage Disease Clinical Presentation

Updated: Aug 12, 2021
  • Author: Ranjodh Singh Gill, MD, FACP, CCD; Chief Editor: George T Griffing, MD  more...
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Presentation

History

GSD VI starts in early childhood.

The clinical presentation is very heterogeneous and variable.

Hallmark features are growth retardation and hepatomegaly.

Hypoglycemia, dyslipidemia, and ketosis are common features.

There is high risk of bone loss if the condition is untreated.

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Physical Examination

The following are characteristic findings on physical examination:

  • Short stature
  • Hepatomegaly
  • Mild cardiomyopathy
  • Fragility fractures and potential deformity if there is associated osteoporosis
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