Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
Brief Summary:
Background:
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.
Objective:
To learn more about propionic acidemia and the genes that might contribute to it.
Eligibility:
People at least 2 years old with PA who can travel to the clinic
Some unaffected family members
Design:
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:
Medical history
Physical exam
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