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Cori disease (GSD3)

Diagnosis & Management

For most people with GSD3 diagnosis will come early in life. The challenges will change as they grow up.

Primary features of GSD3a

The primary features of GSD3a may include the following:

  • A swollen abdomen due to an enlarged liver. This will shrink in size in adulthood, but liver cirrhosis or adenomas may then present as problems.
  • Muscle weakness varies in childhood.
  • Exercise intolerance.
  • Problems maintaining blood sugar level.
  • Delay in growth.
  • Problems with the heart, such as cardiomyopathy, may occur, yet most individuals are unaffected.
  • High levels of fat in the blood (hyperlipidemia)
  • Osteoporosis
  • Polycystic ovary syndrome