Type III Glycogen Storage Disease Clinical Presentation

Updated: May 25, 2017
  • Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD  more...
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Presentation

History

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  • Although the enzyme is found in all tissues, clinical manifestations generally are nonmyopathic.

  • History usually consists of infant seizures.

  • Other features include hepatomegaly and growth retardation.

  • Muscle weakness is very slow in progressing. Vigorous exercise is not associated with cramping, tenderness, or myoglobulinuria.

  • Cortical malformations are reported. Vincentiis and colleagues report one case of polymicrogyria.

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Physical

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  • Debrancher enzyme deficiency may manifest as progressive weakness.

  • Hepatomegaly and splenomegaly are present. Unlike GSD I, kidney enlargement is not observed.

  • Growth retardation may occur.

  • In adults, it may progress to liver cirrhosis or hepatic adenomas.

  • Muscle wasting of interossei may occur.

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