Article
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Orphanet journal of rare diseases - 14 Jan 2024
Bisschoff Michelle, Smuts Izelle, Dercksen Marli, Schoonen Maryke, Vorster Barend C, van der Watt George, Spencer Careni, Naidu Kireshnee, Henning Franclo, Meldau Surita, McFarland Robert, Taylor Robert W, Patel Krutik, Fassad Mahmoud R, Vandrovcova Jana, Wanders Ronald J A, van der Westhuizen Francois H
Abstract excerpt
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...
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