Abstract
Pompe disease (PD) is a rare, autosomal-recessively inherited deficiency in the enzyme acid α-glucosidase. It is a spectrum disorder; age at symptom onset and rate of deterioration can vary considerably. In affected infants prognosis is poor, such that without treatment most infants die within the first year of life. To lose a baby in their first year of life to a rare disease causes much regret, guilt, and loneliness to parents, family, and friends. To lose a baby needlessly when there is an effective treatment amplifies this sadness. With so little experience of rare disease in the community, once a baby transfers to their home they are subject to a very uncertain and unyielding diagnostic journey while their symptomology progresses and their health deteriorates. With a rare disease like PD, the best opportunity to diagnose a baby is at birth. PD is not yet included in the current newborn screening (NBS) panel in Australia. Should it be? In late 2018 the Australian Pompe Association applied to the Australian Standing committee on Newborn Screening to have PD included. The application was not upheld. Here we provide an overview of the rationale for NBS, drawing on the scientific literature and perspectives from The Australian Pompe Association, its patients and their families. In doing so, we hope to bring a new voice to this very important debate.
Highlights
Pompe disease (PD), known as glycogen storage disease II or acid maltase deficiency, is a rare, progressively debilitating lysosomal storage disorder
Within Australia, IOPD diagnosis can occur within a few months of initial symptom onset, but diagnostic delays of up to 7 months have been reported in the literature [10]
Identifying 40 cases of IOPD via newborn screening (NBS) would avert 13 deaths and 26 cases of ventilator dependence amongst babies surviving to 36 months of age, assuming all children were treated with enzyme replacement therapy (ERT)
Summary
Pompe disease (PD), known as glycogen storage disease II or acid maltase deficiency, is a rare, progressively debilitating lysosomal storage disorder. Affected patients have an autosomal-recessively inherited deficiency in the enzyme acid α-glucosidase (GAA, called acid maltase) This deficiency leads to accumulation of glycogen in multiple tissues, especially in the skeletal muscles, heart, and liver [2]. These glycogen deposits disrupt muscle cell architecture and function, causing progressive motor, respiratory, and cardiac dysfunction. The rarity of PD combined with a variety of overlapping clinical signs and symptoms hamper its diagnosis and the initiation of therapy [6,7,8] Such delays have a significant negative impact on patients and their families. We hope to bring a new voice to this very important debate
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