Glycogen storage disease type II: clinical overview

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Glycogen storage disease type II (GSD II), also known as Pompe disease, exhibits significant clinical variability.
• The disease spectrum ranges from severe infantile onset with rapid progression to milder late-onset forms with slower deterioration.

Purpose of the Study:

• To describe the broad clinical spectrum of Glycogen storage disease type II.
• To highlight the diverse organ involvement and varying prognoses associated with different forms of GSD II.
• To discuss the potential impact of enzyme replacement therapy on the disease's natural history and understanding of its heterogeneity.

Main Methods:

• Clinical case review
• Literature synthesis
• Analysis of patient data

Main Results:

• Infantile GSD II presents with severe cardiomyopathy, hypotonia, and hepatomegaly, often leading to death within the first year of life.
• Late-onset GSD II is characterized by progressive skeletal muscle dysfunction, with less severe cardiac involvement and a more favorable short-term prognosis.
• Affected tissues beyond muscle and heart include the liver, spleen, endothelium, lungs, brain, and peripheral nerves, with varied manifestations like hearing loss, abnormal myelination, central fever, and cerebral artery aneurysms.

Conclusions:

• Glycogen storage disease type II is a complex lysosomal disorder with a wide spectrum of clinical presentations and organ involvement.
• Understanding the heterogeneity of GSD II is crucial for accurate diagnosis and management.
• Enzyme replacement therapy is expected to significantly impact the disease's course and enhance our knowledge of its diverse clinical manifestations.