How are types of glycogen storage diseases (GSDs) detected?

There are four symptoms that might cause the doctor to suspect a type of GSD that affects the liver.

These include:

  • A low blood glucose level.
  • An enlarged liver.
  • Lagging growth.
  • Abnormal blood tests.

Because GSDs can run in families, a thorough medical history can also give the doctor a first clue. He or she may suggest some tests that might include:

  • Blood tests – To find out your blood glucose level and to see how your liver, kidneys and muscles are working.
  • Abdominal ultrasound – To see if your liver is enlarged.
  • Tissue biopsy – Testing a sample of tissue from a muscle or your liver to measure the level of glycogen or enzymes present.
  • Gene testing – To look for problems with the genes for different enzymes. Gene testing can confirm a GSD.

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