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

Answered by
Dr. Puneet Kumar Bansal
and medically reviewed by iCliniq medical review team.
This is a premium question & answer published on May 06, 2016 and last reviewed on: Feb 19, 2020

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.

Dr. Puneet Kumar Bansal

General Medicine Internal Medicine
#

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.

The Probable causes:

Genetic autosomal recessive disease.

Investigations to be done:

Genetic testing for enzyme glycogen phosphorylase.

Treatment plan:

Glucose rich and protein rich diet.

Preventive measures:

Have instant source of glucose energy like Glucon-D and candy

Regarding follow up:

For further information consult a general practitioner online.---> https://www.icliniq.com/ask-a-doctor-online/general-practitioner


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Thank you for your advice doctor.

Dr. Puneet Kumar Bansal

General Medicine Internal Medicine
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