Duke University

Update on “Laboratory parameters reflective of metabolic control in individuals with propionic acidemia” at Duke University
Understanding how the results of laboratory tests relate to a person’s current health, treatment options, and future health risks can be invaluable. However, this is an area on which little information for people with propionic acidemia (PA) is available. To address this question, we are measuring and comparing levels of plasma and urine metabolites in people with PA when they are well and during illness. By doing so, we hope to identify laboratory tests that can help healthcare providers decide on the best available treatments, and identify patients most at risk for developing health issues such as pancreatitis.

Since the research study began in April 2013, we have received samples from 11 participants. Participants provide urine and blood samples for the research study during regular visits to their metabolic specialist and if they are hospitalized while ill. We are also including information from samples previously processed at Duke, and reviewing medical records and laboratory test results from the participant’s treating physician.

We have already seen some promising results that warrant further investigation.

This includes:

* Differences between the values of specific amino acids found by comparison of amino acid levels in approximately 110 samples from well individuals with those in 20 samples obtained during illness. We will continue to focus on these amino acids during analysis of future samples.

* Results from our analysis of urine organic acids suggest dysfunction of the tricarboxylic acid (Krebs) cycle, a series of biochemical reactions that produce ATP, the energy currency of the cell. These results confirm previous findings. Continued investigation may help to determine whether treatment with metabolites in the TCA cycle could be helpful.

* As part of the study, fatty acids (components of fat molecules) were measured in blood samples in a small number of participants. Our exploratory data warrants further investigation of odd chain fatty acids as long-term markers of metabolic control.

We still have a wealth of data to analyze and will continue to enroll new participants and collect samples now that the study has entered its third year.

We greatly appreciate the support of this study and would like to thank all of the families who have contacted us.

For questions about the study, please contact the study coordinator, Jennifer Goldstein, at phone number (919) 684-0626 or email [email protected]