ArticleBMJ paediatrics open2018
Incidence of infantile Pompe disease in the Maroon population of French Guiana.
Article in BMJ paediatrics open, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Identification of miRNAs Associated with Infantile-Onset Pompe Disease.Molecular syndromology · 2025Article
- Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.Orphanet journal of rare diseases · 2025Article
- The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).Orphanet journal of rare diseases · 2024Review
- Real-world data of in-hospital administration of alglucosidase alfa in French patients with Pompe disease: results from the National Claims Database.Journal of neurology · 2024Observational
- Infant congenital heart disease prevalence and mortality in French Guiana: a population-based study.Lancet regional health. Americas · 2024Article
- Review
- Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.Orphanet journal of rare diseases · 2022Review
- Review
- Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.Molecular genetics and metabolism reports · 2020Article
- Aetiological and morphological spectrum of cardiomyopathies in French Guiana: a retrospective study.Open heart · 2020Article
- The First Year Experience of Newborn Screening for Pompe Disease in California.International journal of neonatal screening · 2020Article
- High mortality due to congenital malformations in children aged < 1 year in French Guiana.BMC pediatrics · 2018Article
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThe aim of this study was to describe the epidemiology of infantile Pompe disease (IPD) in French Guiana, a French overseas territory, by combining a retrospective case records study and a prospective anonymous genotyping in a sample of mothers followed in the two major maternity units of French Guiana.
methodsWe identified 19 newborns with IPD born within a 13-year-period in French Guiana, corresponding to 1/4528 births. All children were born within the African-American Maroon (Bushinengue) community originating from slaves who settled along the Maroni river in the 19th century. We also performed an anonymised screening for all women in postpartum, in the two main maternity units of French Guiana.
resultsGenetic investigations revealed that all patients with IPD were homozygotes or compound heterozygotes for two known pathogenic variations: c.2560C>T p.(Arg854*) that has already been reported in African-Americans and c.1942G>A p.(Gly648Ser), a rare previously considered to be variant. We identified no heterozygotes among 453 mothers of various ethnicities in Cayenne, but 15 heterozygotes among 425 mothers (1/27) in Saint-Laurent-du-Maroni (95% CI 1/45 to 1/17), all from the Maroon community, which corresponds to an expected IPD incidence in Maroons of 1/1727 (95% CI 1/1156 to 1/8100).
conclusionThe incidence of IPD in the Maroon community is roughly 50 times higher than elsewhere in the world. The presence of only two different variants in all affected patients is compatible with a double founder effect in a relatively small population that has seldom mixed with other regional populations in the past and therefore has a reduced pool of genotypes.
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