Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Michelle BisschoffIzelle SmutsMarli DercksenMaryke SchoonenBarend Christiaan VorsterGeorge van der WattCareni SpencerKireshnee NaiduFranclo HenningSurita MeldauRobert McFarlandRobert W TaylorKrutik PatelMahmoud R FassadJana Vandrovcovanull nullRonald J A WandersFrancois Hendrikus van der WesthuizenPublished in: Orphanet journal of rare diseases (2024)
This study reveals the first extensive genotype-phenotype profile of a MADD patient cohort from the diverse and understudied SA population. The pathogenic variants and associated variable phenotypes were characterised, which will enable early screening, genetic counselling, and patient-specific treatment of MADD in this population.