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.
- 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.