viernes, 15 de febrero de 2019

Systematic literature review and meta-analysis on the epidemiology of propionic acidemia | Orphanet Journal of Rare Diseases | Full Text

Systematic literature review and meta-analysis on the epidemiology of propionic acidemia | Orphanet Journal of Rare Diseases | Full Text



Orphanet Journal of Rare Diseases

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

Orphanet Journal of Rare Diseases201914:40
  • Received: 8 November 2018
  • Accepted: 21 December 2018
  • Published: 

Abstract

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 6.4.1.3). 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.

Keywords

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

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