Infantile-onset Pompe disease is a severe presentation of glycogen storage disease Type II (ICD-11 5C51.3.8) that manifests within the first months of life. The clinical picture is defined by a combination of hypotonia, generalised muscle weakness, and hypertrophic cardiomyopathy — each requiring structured, evidence-based management.
This protocol applies to infants who present in the first few months of life with hypotonia, generalised muscle weakness, and hypertrophic cardiomyopathy — the hallmark triad of infantile-onset Pompe disease (GSD Type II).
The first-line approach for this presentation centres on enzyme replacement therapy; the complete management algorithm is detailed in the full protocol.
Key outcomes include significant regression of left ventricular hypertrophy as early as two months after initiating therapy, resolution of left ventricular outflow tract obstruction after one month, and resolution of the shortened PR interval and elevated QRS voltages.
Infantile-onset Pompe disease presents during the first few months of life with symptoms of hypotonia, generalized muscle weakness and hypertrophic cardiomyopathy.
Patients with infantile-onset Pompe disease should be offered enzyme replacement therapy at a dose of 20 mg/kg every other week.
Left ventricular (LV) hypertrophy shows significant regression as early as two months after initiation of ERT but may not resolve completely in infants started after five months of age, or those with marked increases in LV mass index.
In four patients with LV outflow tract obstruction treated with beta blockers, the obstruction resolved after one month of ERT.
Similarly, the short PR interval and elevated QRS voltages resolve with ERT.
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