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.
We have suggested a video on the right, and below are details of our publications on IOPD.
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, 2012.
