Pompe disease


What are the problems with eating and digestion in infantile Pompe disease?

People with Pompe disease often have problems with eating and swallowing. Infants with Infantile onset Pompe disease (IOPD) have facial muscle weakness (hypotonia) and a big tongue, which causes problems with sucking. Swallowing problems can be caused by weakness as well and can lead to an increased risk for aspiration (inhaling liquid or food into the lungs) which can lead to pneumonia. If a baby is having severe issues with sucking and swallowing or with aspiration, a nasoduodenal tube (which goes through the nose into the stomach) or a gastro-jejunal tube (GJ tube, which goes through a hole in the belly into the stomach) can be used to feed the baby. Sometimes infants with IOPD who start enzyme replacement therapy (ERT) can start eating by mouth again once their muscles get stronger.

Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006 8:267-88.

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