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

Orphanet Journal of Rare Diseases
Tímea AlmásiTamás Zelei

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 lit...Continue Reading

References

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

❮ Previous
Next ❯

Citations

Oct 9, 2020·Orphanet Journal of Rare Diseases·Mengyao DaiLianshu Han
May 13, 2021·Journal of Investigative Medicine High Impact Case Reports·Luis I RodriguezAna C Mavarez

❮ Previous
Next ❯

Software Mentioned

STATA
STATA SE

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.