What is a key laboratory finding in Pompe Disease?

In Pompe disease, which is a glycogen storage disorder caused by a deficiency of the enzyme acid alpha-glucosidase, one of the key laboratory findings is elevated creatine kinase (CK) levels and the presence of oligosaccharides in the urine. The accumulation of glycogen in muscle tissue leads to muscle damage, which in turn results in elevated CK levels. Additionally, since the breakdown of glycogen is impaired, incomplete breakdown products, specifically oligosaccharides, can be detected in urine.

These laboratory findings are significant for diagnosing Pompe disease and differentiating it from other myopathies and metabolic disorders. Understanding the biochemistry behind these findings helps in recognizing patterns that are unique to specific genetic conditions, such as Pompe disease, which is essential for effective patient management and counseling.