There are different types of glycogen storage disease and some are inherited and others may be acquired.
The disorders may be subdivided into groups. One group involves muscle energy impairment.Another group involves mainly the liver and may be associated with enlarged liver and hypoglycemia as complications. A third group involves galactose disorders. A fourth group involves fructose disorders. (There are some overlap of some symptoms between groups such as hypoglycemia or enlargement of the liver within some of the groups other that the second)
I think that type Ia might be her disorder based on what we have discussed. This involves glucose -6 phosphatase deficiency (or translocase deficiency) This type may be associated with growth retardation, enlarged liver and kidney, hypoglycemia (this could be confused if she also had diabetes however), elevated blood lactate, high cholesterol and triglycerides and uric acid. She could be tested for G6PD (glucose 6 phosphatase deficiency) If she had this subtype then she would need some dietary restrictions and directions>> avoidance of fructose and galactose, dietary supplements of calcium and multivitamins. Hyperlipidemia would be likely treated with a cholesterol lowering medicine such as Lipitor or Crestor, Allopurinol might be needed to lower uric acid levels and reduce risk of gout. An ACE inhibitor (blood pressure medicine ) would be helpful to protect the kidneys and a citrate supplement might be needed to help protect against kidney stones. Note that a prolonged fast would need to be avoided as this would induce an acidosis.
The above example is relatively common as compared to some. There may be clues as to her subtype from any health problems during her childhood.
Other subtypes are possible and the type does need to be confirmed with testing. I don't suggest that you pursue any of the treatment steps for the above example without confirmation of the type with further testing. If she has G6PD deficiency then she would also need to let any MD know of the condition as there are some drugs that are contra-indicated with this condition.
Subtypes IX, 0 and XI would also potentially fit her clinical picture and these would be relatively benign in their course as compared to most of the others.
So I think that for now the theory that she may have a glycogen storage disease is just a theory but it does seem to fit with certain aspects of her findings. This theory needs to be confirmed and the subtype needs to be established if she indeed does have one of these. The potential treatment recommendations would vary depending on the subtype and specific enzyme deficiency.
Specifically pertinent to her situation of having diabetes plus a glycogen storage disease is the complicated picture that she may typically have high blood sugars but would be at high risk for abnormal LOW blood sugars if she fasted for a long period of time. (Glycogen is the buffer that is broken down into sugar when the supply runs low) This would also correspond to a lactic acidosis. These aspects would certainly fit. Some types of glycogen storage disease will have more or less effects on her liver, kidneys and muscles. She may have high cholesterol due to one of these glycogen storage diseases.
I hope this information helps. If you should have further questions then let me know and I will be happy to get back with you. If my answer has been helpful and to your satisfaction then please remember to press the "ACCEPT" button. Thank You and Best Regards,
Anthony Bray MD