Pompe disease

Diagnosis and Testing

Can I have Pompe disease and still have normal creatine kinase levels?

Creatine kinase (CK) is an enzyme that is produced in all muscles. When muscles are being broken down because of a muscle disease, the CK goes into the blood stream. Therefore, measuring CK in the blood can be an indication of whether a person has muscle breakdown. Around 95% of the time, a person with Pompe disease has elevated creatine kinase (CK/CPK) levels. Babies with infantile Pompe disease have very elevated CK levels because their muscles breakdown faster.

CK can be high for many reasons. If a person runs a marathon, they will likely have a high CK for a little while afterward because they had some mild muscle breakdown by running so long. However, if a person has a high CK without exercising and has some muscle weakness, it may be because of a muscle disease. In Pompe disease, the CK is elevated due to muscle breakdown and can be over 10 times the normal range (less than 200 UI/L).

Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006 8:267-88.

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