Systematic literature review and meta-analysis on the epidemiology of propionic acidemia

Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó, Tamás Zelei

Research output: Contribution to journalReview article


Propionic acidemia (PA, OMIM #606054) is a serious, life-threatening, inherited, metabolic disorder caused by the deficiency of the mitochondrial enzyme propionyl-coenzyme A (CoA) carboxylase (EC The primary objective of this study was to conduct a systematic literature review and meta-analysis on the epidemiology of PA. The literature search was performed covering Medline, Embase, Cochrane Database of Systematic Reviews, CRD Database, Academic Search Complete, CINAHL and PROSPERO databases. Websites of rare disease organizations were also searched for eligible studies. Of the 2338 identified records, 188 articles were assessed for eligibility in full text, 43 articles reported on disease epidemiology, and 31 studies were included into the quantitative synthesis. Due to the rarity of PA, broadly targeted population-based prevalence studies are not available. Nonetheless, implementation of newborn screening programs has allowed the estimation of the birth prevalence data of PA across multiple geographic regions. The pooled point estimates indicated detection rates of 0.29; 0.33; 0.33 and 4.24 in the Asia-Pacific, Europe, North America and the Middle East and North Africa (MENA) regions, respectively. Our systematic literature review and meta-analysis confirm that PA is an ultra-rare disorder, with similar detection rates across all regions with the exception of the MENA region where the disease, similar to other inherited metabolic disorders, is more frequent.

Original languageEnglish
Article number40
JournalOrphanet journal of rare diseases
Issue number1
Publication statusPublished - Feb 13 2019



  • Epidemiology
  • Inherited metabolic disorder
  • Meta-analysis
  • Newborn screening
  • Propionic acidemia
  • Systematic literature review

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

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