SynthesisOrphanet journal of rare diseases2019
Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.
Synthesis in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed.
- Article
- Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.Orphanet journal of rare diseases · 2026Article
- Case Report: When metabolism meets malabsorption: Imerslund-Gräsbeck syndrome with coexisting propionic acidemia presenting as recurrent metabolic crises.Frontiers in nutrition · 2026Article
- Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.Orphanet journal of rare diseases · 2025Article
- Clinical burden of propionic acidemia in the United States: a claims-based study by age stratum.Orphanet journal of rare diseases · 2025Article
- Economic burden of propionic acidemia in the United States: a claims-based study.Orphanet journal of rare diseases · 2025Article
- Six Chinese patients with propionic acidemia: from asymptomatic to death in the neonatal period.Orphanet journal of rare diseases · 2025Article
- Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome.Molecular syndromology · 2024Article
- Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia.Molecular therapy. Methods & clinical development · 2023Article
- Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience.Human gene therapy · 2023Article
- Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.Orphanet journal of rare diseases · 2022Article
- Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.International journal of neonatal screening · 2022Article
- Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia.Orphanet journal of rare diseases · 2022Article
- Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report.World journal of clinical cases · 2021Article
- Dietary management and growth outcomes in children with propionic acidemia: A natural history study.JIMD reports · 2021Article
- Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.Orphanet journal of rare diseases · 2020Article
- Anesthetic Management for Pediatric Liver Transplantation in a Patient With Propionic Acidemia: A Case Report.Journal of investigative medicine high impact case reportsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
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.
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