About Propionic Acidemia
Propionic acidemia is an organic acidemia caused by deficiency of propionyl-CoA carboxylase, a biotin-dependent enzyme that catabolizes propionyl-CoA to methylmalonyl-CoA. Accumulation of propionic acid and toxic metabolites causes recurrent metabolic crises, hyperammonemia, cardiomyopathy, and progressive neurological damage. Long-term complications include dilated cardiomyopathy, which is a leading cause of death in older patients.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Propionic Acidemia trials.
Cardiomyopathy status is a critical eligibility factor — echocardiographic data is typically required at screening
Plasma propionylcarnitine (C3) and urinary methylcitrate are the key biomarkers for eligibility and monitoring
Liver transplantation reduces metabolic crisis frequency but does not resolve cardiomyopathy — transplant status affects trial eligibility
mRNA therapy trials (e.g., mRNA-3927) may require a minimum number of metabolic crises in the prior year as inclusion criteria
Patient Resources
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