Incidence of infantile Pompe disease in the Maroon population of French Guiana.

ABSTRACT:

Objectives

The 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.

Methods

We 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.

Results

Genetic investigations revealed that all patients

SUBMITTER: Elenga N 

PROVIDER: S-EPMC5842995 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature