Early-onset (or Classic infantile Pompe disease) is the result of complete or near-complete deficiency of the enzyme alpha-glucosidase.
Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag.
Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. More than half of all infants with Pompe disease also have enlarged tongues.
Without an early diagnosis and early access to treatment most babies with Infantile Onset Pompe Disease die from cardiac or respiratory complications.
A diagnosis of infantile Pompe Disease is not always a terminal diagnosis. There are many factors that affect outcomes, such as early diagnosis and early access to treatment.
Children overseas diagnosed at birth via New Born Screening and given treatment within weeks of birth are having far better outcomes. Australia is not currently testing for Pompe Disease via New Born Screening.