Pompe disease (GAA deficiency

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells causing an inability to function properly.

Signs and Symptoms
Type I (Classic): Onset begins within a few months and triggers symptoms such as muscle weakness, enlarged liver, and heart defects. If untreated, this form leads to death within the first year of life. Type II (Non- classic): Typically appears by the age of one with characteristics including delayed motor skills and progressive muscle weakness. This form can cause death within early childhood. Type III (Late-onset): May not become apparent until adulthood and may cause muscle weakness and progressively worsening breathing problems.


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