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In this observational study researchers will review medical and laboratory records from Amish and Mennonite patients with propionic acidemia (PA) to identify markers that can be used to track clinical symptoms and effects of ongoing management. PA is a condition caused by absence or low levels of an enzyme called propionyl-CoA carboxylase. Most people with the classic form of this condition have severe problems as infants, including problems using protein from food and high ammonia levels. Patients with the Amish and Mennonite variant of PA, however, have variable and generally less severe disease. Results of this study may help clinicians to determine how much to limit protein in their patients’ diets and with regard to other care needs throughout their lives.
Members of Amish and Mennonite communities who have been previously identified through genetic testing as having 2 copies of the variant will be contacted for permission to review their records as part of this study.
Males and Females: All ages
Other than granting permission, there are no special requirements.
Visits: Not applicable
Duration: Not applicable
Study Description at National Institutes of Health
Medical Genetics Research
Lina Ghaloul Gonzalez, MD
For more information about the study or enrollment, please contact:
Cate Walsh Vockley, MS, LCGC
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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