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

Orphanet Journal of Rare Diseases
Tímea AlmásiTamás Zelei


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 lit...Continue Reading


Apr 1, 1979·Australian and New Zealand Journal of Medicine·J C GibsonJ F Mahony
Jan 1, 1984·Journal of Inherited Metabolic Disease·R Rousson, P Guibaud
Nov 1, 1994·Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry·R L AmideiJ A Marshall
Jan 1, 1995·Journal of Child Neurology·R L HamiltonM R Grafe
Jan 5, 2000·Pediatrics·D A ApplegarthR B Lowry
Jan 8, 2000·Acta Paediatrica. Supplement·V WileyB Wilcken
Apr 16, 2002·The Journal of Pediatrics·Carlo Dionisi-ViciDamiano Abeni
Jul 20, 2002·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Yosuke ShigematsuSeiji Yamaguchi
Jun 6, 2003·The New England Journal of Medicine·Bridget WilckenKevin Carpenter
Jul 31, 2003·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·E G Puffenberger
Jan 10, 2004·European Journal of Pediatrics·Georg F HoffmannAdelbert A Roscher
Feb 3, 2004·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Anne Marie ComeauRoger B Eaton
Mar 8, 2005·Clinica Chimica Acta; International Journal of Clinical Chemistry·Hye-Ran YoonSi Houn Hahn
May 4, 2005·Journal of Inherited Metabolic Disease·H Ogier de BaulnyJ M Saudubray
Apr 8, 2006·Journal of Inherited Metabolic Disease·D M FrazierJ Muenzer
Apr 8, 2006·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Nicola Longo
Mar 19, 2008·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Heon-Jeong Lee
Apr 17, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·David L Pauls
Feb 24, 2010·Journal of Inherited Metabolic Disease·Laura VilarinhoRui Vaz Osório
Jun 23, 2010·Journal of Inherited Metabolic Disease·Dau-Ming NiuKwang-Jen Hsiao
Jul 14, 2010·Annals of Saudi Medicine·Hissa MoammarNouriya Al-Sannaa
Aug 20, 2010·Journal of Inherited Metabolic Disease·Yannis L LoukasKonstantinos Papadopoulos
Jun 22, 2011·Orphanet Journal of Rare Diseases·Martin LindnerGeorg F Hoffmann
Dec 3, 2011·Journal of Inherited Metabolic Disease·S C GrünertJ O Sass
Jun 9, 2012·American Journal of Medical Genetics. Part a·Loren Pena, Barbara K Burton
Jun 30, 2012·Journal of Clinical Epidemiology·Damian HoyRachelle Buchbinder
Jul 7, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lisa FeuchtbaumFred Lorey
Jul 23, 2014·Molecular Genetics and Metabolism·M BarendsUNKNOWN Newborn Screening Laboratory Staff
Jul 26, 2014·Human Heredity·Khalid Al-ThihliSaid A Al-Yahyaee
Sep 11, 2014·Orphanet Journal of Rare Diseases·Matthias R BaumgartnerAnupam Chakrapani
Feb 18, 2015·Molecular BioSystems·Emanuela ScolamieroMargherita Ruoppolo

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