Type Ia Glycogen Storage Disease Clinical Presentation

Updated: Jul 07, 2021
  • Author: Kathleen R Ruddiman, DO; Chief Editor: George T Griffing, MD  more...
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Presentation

History

The initial presentation is most often characterized by abdominal distension and failure to thrive. Patients may present with hypoglycemic seizures or coma. [9]

Global muscle weakness is not a typical feature of von Gierke disease. Schwahn et al found height, weight, bone mass, and grip force decreased in one group of GSD 1a patients. [10]  Older patients may give a history of kidney stonesgout, or pancreatitis.

Patients may have delayed puberty. Intellectual development may be diminished, especially in patients who have experienced coma. [9]

A prospective study by Melis et al found that GSD Ia patients had a higher prevalence of insulin resistance and metabolic syndrome. [11]

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Physical Examination

Physical examination may reveal the following findings:

  • Hepatomegaly or abdominal distension

  • Tachypnea in infants as a respiratory mode of compensation for lactic acidosis 

  • Characteristic round facies

  • Xanthomas on the buttocks or extensor surfaces

  • Acute manifestations of gout

  • Hypertension or other manifestations of renal failure

  • Short stature [9]

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