Mitochondria make most of the energy needed for cells and organs to work properly. For this reason, when mitochondria are not working well, children can have problems with many parts of the body. This includes a wide array of problems with gastrointestinal function.

Symptoms may occur because of abnormal coordination of swallowing muscles, defects in esophageal motility, problems with stomach emptying, problems moving food through the small bowel, and defects in colon motility. Depending on the region of the bowel affected, mitochondrial disease can cause difficulty swallowing, abdominal pain, vomiting, constipation, and in the most severe forms, problems with motility that make it difficult to eat enough food to grow. Mitochondrial disease can also affect the liver, pancreas, and the bowel lining, leading to abdominal symptoms.

We partner with Mitochondrial Medicine, a Frontier Program at Children's Hospital of Philadelphia (CHOP), to care for children with mitochondrial disease. We pursue a wide range of diagnostic studies to evaluate the causes of symptoms and then work together to help children feel better.

In addition to “standard testing,” the Suzi and Scott Lustgarten Center for GI Motility team pursues many specialized tests to evaluate bowel motility including:

• Esophageal manometry
• Antroduodenal manometry
• Colon manometry
• Anorectal manometry

After diagnostic testing, we work with mitochondrial disease specialists to optimize medical or surgical management. This includes:

• Evaluating the effect of medicines on bowel motility
• Specialized medicines to enhance bowel motility
• Helping with feeding to meet nutritional goals and avoid fasting
• Consideration of the appropriateness of surgical intervention

When surgery is recommended, we coordinate care closely with our CHOP pediatric surgeons to ensure optimal care before, during and after surgery.

Most importantly, we work as a team to improve the quality of life of children with mitochondrial disease. We discuss diagnostic and treatment strategies formally in the Motility Center. In addition to physicians and nurses, we have psychologists, dieticians, and child life specialists who help children return to normal activities.