Abstract
Propionic Acidemia (PA) is characterized by the accumulation of propionic acid (PPA), its toxic derivatives, and ammonia. The disease causes multiorgan damage, especially in heart, pancreas, and brain; seizures and intellectual disability are often described. Some PA children also show autism spectrum disorders (ASD). In this study, we have compiled data from 62 individuals from the Propionic Acidemia International Patient Registry and compared it to the published literature on the prevalence of autism in PA. The PA registry shows a significant proportion of ASD diagnoses that is consistent with the combined prevalence reported in the literature. It also shows that ASD in PA is gender balanced and it is diagnosed at older ages (median age 8 years) than in the national registry for autism (median age 4.3 years), which raises the possibility, among others, of PA specific risk factors affecting the natural history of ASD. Data from patient registries provide valuable information on studying the mechanisms involved in a rare disease, although more outreach effort must be done to increase participation and consistency in data entry.
Highlights
Propionic Acidemia (PA) is an inborn error of metabolism caused by mutations in propionyl-CoA carboxylase (PCC)
Data from PA and UCD-affected patients were collected from the UCD/PA International Patient Registries, created in 2012, and maintained by the Propionic Acidemia Foundation (IL) and the National Urea Cycle Disorders Foundation (CA), respectively
Information is collected through a web-based questionnaire consisting of 52 questions related to initial diagnosis and medical history of which a subset related to hospitalizations, hyperammonemia, cardiac, developmental or neurological diagnoses was included
Summary
Propionic Acidemia (PA) is an inborn error of metabolism caused by mutations in propionyl-CoA carboxylase (PCC). There is evidence from studies in rats that high concentrations of PPA in the brain lead to abnormal behaviors, like delayed habituation to novelty in openfield tasks or repetitive motor activity and hyperactivity.8 The relevance of this observation to PA is unclear given differences in methodology and exposure to PPA in addition to differential PCC enzyme activity, which make comparisons nearly impossible. Despite these evidences, the true prevalence of ASD in PA and other inborn errors of metabolism has been difficult to assess given the high variability in the number of. We collected information from the PA International Patient Registry maintained by the PA Foundation and compared it to the published prevalence of ASD in PA to obtain an improved estimate of the prevalence of this condition in this patient population
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