[Pompe's disease: the role for early diagnosis and treatment]

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Pompe disease (PD) is a rare genetic disorder caused by deficiency of the enzyme acid alpha-glucosidase.
• Glycogen accumulation in cellular lysosomes leads to progressive cellular damage and organ dysfunction, particularly affecting cardiac and skeletal muscles.

Observation:

• A female infant presented with severe cardiac hypertrophy, a critical manifestation of Pompe disease.
• The infant's condition indicated significant cardiac involvement due to glycogen deposition.

Findings:

• Treatment with recombinant human acid alpha-glucosidase (enzyme replacement therapy) was initiated.
• The therapy resulted in a notable and progressive reduction in cardiac hypertrophy.

Implications:

• Enzyme replacement therapy is an effective treatment for cardiac manifestations in Pompe disease.
• Early intervention with ERT can lead to significant clinical improvement and potentially alter the disease course in affected infants.