Type Ia Glycogen Storage Disease Clinical Presentation

Updated: Mar 07, 2017
  • Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD  more...
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  • Initial presentation may be active seizures, specifically hypoglycemic seizures.

  • Global muscle weakness is not a uniform feature of von Gierke disease. Schwahn and colleagues found height, weight, bone mass and grip force decreased in one group of GSD 1a patients. [5]

  • Patients may give a history of kidney stones or gout.

  • Patients may have had pancreatitis.



See the list below:

  • Physical examination may reveal hepatomegaly. Because many causes of hepatic injury exist, suspicion of glycogen storage disease (GSD) must be high.

  • Hypotonia is found in infants.

  • Hypoglycemia is concerning and may lead to hypoglycemic seizures.

  • Xanthomas may be present on the buttocks or extensor surfaces.

  • Acute manifestations of gout may be observed.

  • Hypertension or other manifestations of renal failure may be present.

  • Short stature may be seen in the untreated patient.

  • A prospective study by Melis et al found that GSDIa patients had a higher prevalence of insulin resistance and metabolic syndrome. [6]