HomeAnswersGeneral Practitionermcardle's diseaseWhat is McArdle's disease?

What abnormality can be seen in the blood report in McArdle's disease?

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The following is an actual conversation between an iCliniq user and a doctor that has been reviewed and published as a Premium Q&A.

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Published At May 6, 2016
Reviewed AtJune 16, 2023

Patient's Query

Hello doctor,

My brother has done a McArdle's test in hospital. They concluded that the glycolysis in cytoplasm is normal, but reduced function of mitochondriosis have been seen in muscle. They conclude this abnormality through the blood analysis. The respiratory and the cardiac functions have been judged normal. My question is what abnormality can be seen on the blood sample result? What is in excess or lack, either potassium or ammonia? I have attached his blood analysis for your reference.

Hi,

Welcome to icliniq.com.

McArdle's disease is caused by deficiency of enzyme glycogen phosphorylase, which causes inability to breakdown glycogen. It is a genetic disease; autosomal recessive, which means when both your parents have abnormal gene it is inherited. Just you have to vary dietary habits such as high protein diet; glucose in case of energy need like candy or Glucon-D. It does not cause any symptoms. Yes, it leads to hyperammonemia which is caused by protein breakdown. Glycogen is the main source of energy while we are not eating. So, have a glucose source of energy when in need and a high protein diet instead of complex carbohydrates. Thank you and take care.

The Probable causes

The probable causes are Genetic autosomal recessive disease.

Investigations to be done

Investigations to be done are genetic testing for enzyme glycogen phosphorylase.

Treatment plan

The treatment plan is Glucose-rich and protein-rich diet.

Preventive measures

Preventive measures include having an instant source of glucose energy like Glucon-D and candy

Patient's Query

Thank you for your advice doctor.

Hi,

Welcome back to icliniq.com. You are welcome.

Same symptoms don't mean you have the same problem. Consult a doctor now!

Dr. Puneet Kumar Bansal
Dr. Puneet Kumar Bansal

Internal Medicine

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