Is high creatine kinase isoenzyme related to GSD?
Patient's Query
Hi doctor,
I can run slowly and do aerobic exercise for 45 minutes. But, if I try anaerobic workout I get tired very soon and feel very thirsty. I have this problem since four years. I have the ability to fast for three days or drink only water. But, when it comes to anaerobic workout like push-up or a sprint, I am unable to do. During anaerobic workout, I get the feeling of accumulation of glucose in my muscle. To do anaerobic exercise, I need to drink lots of water. When I begin to do my muscle stretching exercise after a running session of 45 minutes, my heart beat rises and I get a feeling of breathlessness. Few months back, I consulted a doctor and he told me that, I am suffering from glycogen storage disease. I would like to know which type is it. Kindly help me with the solution.
Hello,
Welcome to icliniq.com.
I would like to know few more information to help you better. Can I know your age and sex? Anyone else in your family with such disease? Have you got tests for diabetes, thyroid disorders and anemia done?
Patient's Query
Hello doctor,
I am a 27 year old male. No family history of this disease. My mother is suffering from osteoarthritis because of overweight. I eat a normal and balanced diet. I got most of the tests done. My fasting blood sugar, complete blood count, creatinine phosphokinase (176 mcg/L), MCV, ESR, cholesterol triglyceride, HDL, LDL, liver enzyme tests, blood bilirubin, creatinine, blood level of iron, magnesium, calcium, sodium, potassium, chlorine, TSH, T4, T3, thyroglobulin, serum-protein electrophoresis, C-reactive protein, prolactin, ACTH, ADH, lactate dehydrogenase (159 U/L), lactic acid (0.76 mmol/L), folic acid, thiamine (89 nmol/L), vitamin B6, vitamin B12 and brain MRI are found to be normal. Creatine kinase isoenzyme showed 190 IU/L at 37 degrees found to be very high. It was taken 3 days before without any sports. My albumin count is 50.0 g/L. I even consulted an ophthalmologist, psychiatrist and a neurologist but found nothing abnormal. I have attached my reports. Please have a look into it and kindly help. Thank you in advance.
Hello,
Welcome back to icliniq.com.
After having a look into the reports (attachment removed to protect patient identity) you have provided, I do not feel anything abnormal. Glycogen storage disease (GSD) is usually identified at an early age. You will fit into GSD type VII or XII. These two are associated with exercise-induced muscle cramps and weakness. You might also have GSD type XIII. It can be associated with episodic rise in creatine kinase that decreases with rest. In your case, all the investigations are normal, except for elevated levels of creatine phosphokinase. To rule out any abnormality and problems associated with GSD, I would suggest you to get a muscle biopsy done. For your information, I would like to make it clear that GSD are associated with hypoglycemia.
Same symptoms don't mean you have the same problem. Consult a doctor now!
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