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

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 po...

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Bibliographic Details
Main Authors: Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovcova, The ICGNMD Consortium, Ronald J. A. Wanders, Francois H. van der Westhuizen
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Multiple acyl-CoA dehydrogenase deficiency
MADD
Glutaric aciduria type II
ETFDH
Riboflavin
South Africa
Online Access:https://doi.org/10.1186/s13023-023-03014-8

Internet

https://doi.org/10.1186/s13023-023-03014-8

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