People s bodies need to break down food into the chemicals. These chemicals are used for
energy and growth. Some people cannot process all chemicals very well. Too much of some
chemicals can cause diseases. One of these diseases is called propionic acidemia (PA). People
with PA can have problems with growth, learning heart, abdomen, and other organs. Researchers
want to better understand how these problems happen.
To learn more about propionic acidemia and the genes that might contribute to it.
People at least 2 years old with PA who can travel to the clinic
Some unaffected family members
Participants will have a 3 to 5-day hospital visit every year or every few years. Family
members may have just 1 visit.
During the family member visit, they may have:
Samples of blood and urine
Questions about diet and a food diary
Doctors and nurses may do additional studies:
Samples of saliva, skin and stool
Fluid from a gastronomy tube, if participants have one
Dental and eye evaluations
A kidney test - a small amount of dye will be injected and blood will be collected.
Consultations with specialists
A test of calories needed at rest. A clear plastic tent is placed over the participant to
Stable isotope study. Participants will take a nonradioactive substance then blow into a bag.
Photos taken of the face and body with underwear on
Ultrasound of the abdomen
Participants may have other tests if study doctors recommend them. They will get the results
of standard medical tests and genetic tests.