EC Paediatrics

Pompe disease, or acid maltase deficiency or glycogen storage disease type II, is a metabolic disorder with deficiency of acid α-glucosidase.

There are two classic forms of the disease: infantile-onset Pompe disease and late-onset Pompe disease.

In IOPD, symptoms are distal muscle weakness that precede proximal muscle weakness, hypotonia, macroglossia, hepatomegaly, hypertrophic cardiomyopathy and death secondary to cardiorespiratory failure in the first 12 months of age, if not treated.

In LOPD, the age of onset is 1 years old to 50s with symptoms of respiratory insufficiency and limb–girdle weakness.

Symptoms of LOPD started in the proximal lower limb and paraspinal trunk muscles.

We can do Dried Blood screening for detection of PD and confirm later on with gene study.

After the diagnosis, we can initiate with a dose of 20 mg/kg every other week. High-dose ERT (40 mg/kg biweekly) results showed that prescription gave the best outcomes, and a dosage increase is needed upon a rise in biomarker levels.

Keywords: Pompe Disease; Dried Blood Screening

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