The authors note no conflict of interest. No honoraria, grant or other support was received by either author in conjunction with the work described in the manuscript.
Article first published online: 7 JUN 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 7, pages 1641–1646, July 2012
How to Cite
Pena, L. and Burton, B. K. (2012), Survey of health status and complications among propionic acidemia patients. Am. J. Med. Genet., 158A: 1641–1646. doi: 10.1002/ajmg.a.35387
How to Cite this Article: Pena L, Burton BK. 2012. Survey of health status and complications among propionic acidemia patients. Am J Med Genet Part A. 158A:1641–1646.
- Issue published online: 18 JUN 2012
- Article first published online: 7 JUN 2012
- Manuscript Accepted: 3 MAR 2012
- Manuscript Received: 10 NOV 2011
- propionic acidemia;
- organic acidemia;
- long QT;
Propionic acidemia (PA) is a rare organic acidemia that is due to deficiency in the enzyme propionyl-coA carboxylase. Complications are currently described mostly in the form of case reports. We sampled a population of affected individuals in order to estimate the frequency of complications amongst the sample. The study is a cross-sectional retrospective review with a survey instrument and recruitment through the Propionic Acidemia Foundation. Responses for 58 individuals were tabulated for each question as how frequently the complication was reported among responders. Commonly reported findings included seizures, arrhythmia, leucopenia, and anemia. Developmental and cognitive disabilities were reported in the majority of individuals. Heart failure or cardiomyopathy was reported in over half of deceased individuals at time of death. Pancreatitis was reported in a minority of the sample, yet more than half of these reported a recurrence. These results update and extend our current knowledge of recognized complications among individuals with PA. The results also provide new information regarding developmental outcomes and previously unreported morbidity from cardiac and gastrointestinal complications. Longitudinal studies exploring associated biochemical and clinical parameters are necessary to further our understanding of the pathophysiology of PA and its complications. © 2012 Wiley Periodicals, Inc.