Levels of muscle-type creatine kinase (CK-MM) could help identify patients with infantile-onset Pompe disease at birth, according to a new study published in the journal Molecular Genetics and Metabolism. This way, disease-specific treatment can be initiated immediately to achieve the best outcomes for these patients.

Levels of CK-MM can be used as a newborn screening marker to identify patients with Duchenne muscular dystrophy, the researchers noted.

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Here, a team of researchers from Taiwan led by Wuh-Liang Hwu, MD, PhD, of the department of pediatrics at the National Taiwan University Hospital in Taipei measured acid-alpha-glucosidase (GAA) enzyme activity and CK-MM levels in dried blood spots using commercialized kits. Since 2021, they simultaneously checked CK-MM levels on 25 samples positive for GAA deficiency, the authors added.

The results showed that of these 25 samples, 6 met their critical criteria of GAA deficiency and needed further analysis. Of these 6, 4 also showed CK-MM levels above the 90th percentile of the population, of which 2 were confirmed as infantile-onset Pompe disease and treated from 8 and 11 days from birth.

The study’s authors concluded that newborn screening using CK assay, “provides the chance as a 2nd tier assay to early differentiate patients with infantile-onset Pompe disease.”

 “Adding the newborn screening markers is helpful in making the critical judgment of babies with GAA deficiency or Pompe disease,” they said.

Pompe disease is a rare genetic disease characterized by the deficiency or absence of the GAA enzyme, the function of which is to cleave glycogen to form glucose. There are 2 main types of Pompe disease based on the age of onset of symptoms and whether or not cardiomyopathy is present. These are infantile-onset Pompe disease, in which symptoms appear before age 1 and involve cardiomyopathy, and late-onset Pompe disease, which is less severe and the symptoms of which appear after age 1.


An-Ju L, Chen P-W, Chien Y-H, Hwu W-L. CK-MM as a second-tier test for Pompe disease newborn screening. Mol Genet Metab. Published online February 8, 2023. doi:10.1016/j.ymgme.2022.107002