Type Ib Glycogen Storage Disease Clinical Presentation

Updated: Apr 11, 2017
  • Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD  more...
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  • Initial presentation may be hypoglycemic seizures.

  • Although muscle weakness is not a uniform feature of glycogen storage disease (GSD), type I, Schwahn and colleagues report an association between reduced muscle force and poor metabolic control. [6]

  • Skin and pulmonary infections are frequent.

  • Patients may report symptoms of inflammatory bowel disease including cramps, fever, and abdominal pain.



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  • Physical examination findings may include hepatomegaly. Because many causes of hepatic injury exist, suspicion must be high.

  • Examination findings may suggest infection of lung or skin.

  • Findings also may include acute abdomen and perioral or perianal infections.

  • Hypotonia is found in infants.