In infantile-onset Pompe disease there is a complete lack of GAA enzyme, or such a small amount that it is undetectable. Symptoms appear in the first few weeks or months of life.
Infantile-onset Pompe disease (IOPD)
Infantile-onset is extremely rare with around 25-30 affected children in the UK.
This form of the condition means there is a complete lack of GAA enzyme or such a small amount that it is undetectable. It is more serious than late-onset Pompe disease.
Symptoms appear in the first few weeks or months of life including; feeding problems, poor weight gain, floppy muscles as well as heart and breathing problems.
Parents of newly diagnosed children, please ask us for your copy of our “Guide to Infantile Pompe Disease” and our very comprehensive “IOPD Information Pack”.
Hope in the Genes
A short film giving insight into different families that have a child with Pompe disease (GSD2). The film also looks into the developing treatments that could help those affected.
A project of Jamie and Allan Muir, 2112.