Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

ABSTRACT:

Background

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the variants occurring in the electron transfer flavoprotein-ubiquinone oxidoreductase gene (ETFDH). Recent evidence of potential founder variants for MADD in the South African (SA) population, initiated this extensive investigation. As part of the International Centre for Genomic Medicine in Neuromuscular Diseases study, we recruited a cohort of patients diagnosed with MADD from academic medical centres across SA over a three-year period. The aim was to extensively profile the clinical, biochemical, and genomic characteristics of MADD in this understudied population.

Methods

Clinical evaluations and whole ex

SUBMITTER: Bisschoff M 

PROVIDER: S-EPMC10789041 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature