PSY37 - SYSTEMATIC LITERATURE REVIEW ON THE WORLDWIDE EPIDEMIOLOGY OF PROPIONIC ACIDEMIA

Abstract

Propionic acidemia or aciduria (PA) is a serious, life-threatening inherited metabolic disorder characterized by the accumulation of propionic acid and other toxic metabolites due to deficiency in propionyl-CoA carboxylase, a mitochondrial enzyme complex comprised of two subunits that participates in the breakdown of certain proteins and fats. PA is associated with significant morbidity and mortality, with the majority of patients presenting within the first few days or weeks of life. The objective of this systematic literature review was to assess and compile published epidemiological data on PA (OMIM #606054). The SLR was conducted and reported in compliance with the PRISMA statement and covered Medline, Embase, Cochrane Database of Systematic Reviews, CRD, Academic Search Complete, CINAHL and PROSPERO databases. Websites of rare disease organizations were also searched for eligible studies. Out of the 3312 identified records, 188 papers were assessed for eligibility in full text and finally, 79 articles were included into the qualitative synthesis. Newborn screening programs provided relatively precise estimates on the birth prevalence of PA. The overall detection rates of PA remained under 8.14 cases per 100,000 newborns in all geographic regions. A tendency towards increased birth prevalence rates was observed in the Middle East and North Africa. Studies conducted in North America and Europe reported birth prevalence rates lower than 2.2 cases per 100,000 newborns. Point prevalence was not reported in any article with the exception of one study from Oman that estimated 0.40 cases per 100,000 inhabitants. The majority of the relevant publications reported on newborn screening programs that provided valuable data on the birth prevalence of the disease. Only one study reported point prevalence for the disorder. The conducted literature review clearly indicates that PA is a rare disease.