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

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. Electronic supplementary material The online version of this article (10.1186/s13023-018-0987-z) contains supplementary material, which is available to authorized users.

Newborn Screening for Methylmalonic Acidemia/propionic Acidemia: Systematic Evaluation of a Two-pronged Approach Based on MS/MS and UPLC-MS/MS

“…However, the incidence of MMA de ciency in China varies greatly and affects neonates from 1:3220 to 1:21,488 in different reports 8 . Conversely, for PA, the previously reported epidemiological data appears to be slightly lower, with an incidence of PA is a rare organic acidemia with an average estimated incidence of ~ 1:100,000-150,000 in the worldwide 9,10 . NBS using tandem mass spectrometry (MS/MS) and dried blood spots (DBSs) is a signi cant innovation in inherited metabolic disease detection 11 .…”

Anesthetic Management for Pediatric Liver Transplantation in a Patient With Propionic Acidemia: A Case Report

“…Incidence of PA in the general population is 1:100 000 to 150 000 live births. 1 Newborn screening has allowed for increased identification of PA, but screening is not commonly performed and diagnosis usually occurs after the onset of clinical symptoms early in life, 5 characterized by lethargy and vomiting. Laboratory analysis typically reveals a metabolic acidosis, hyperammonemia, and elevated urinary ketones, 6 metabolic derangements that are a result of states of increased catabolism.…”

Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report

“…The birth prevalence of PA across Asia-Pacific, Europe, and North America is 0.29, 0.33, and 0.33 per 100000 newborns, respectively[ 7 ], however, it is still unknown in Mexico. This disorder appears to be very rare for the Mexican population, as determined by at least two expanded neonatal screening reports applying an acylcarnitine profile[ 8 , 9 ], even though PA comprises around 7% of all detected inborn errors of intermediary metabolism in Mexican patients[ 10 ].…”