Isovaleric acidemia (IVA) is one of the organic acidemias that are periodically diagnosed in South Africa, of which all cases up to now were of Caucasian origin. IVA is an autosomal recessive disorder caused by isovaleryl-CoA dehydrogenase (IVD) deficiency and it is currently recognised as a disorder with a heterogeneous phenotype, ranging from metabolically mild and/or intermittent to metabolically severe. Marli Dercksen presents the outcome of the well-established clinical, biochemical and genetic approach which is followed to characterise an inborn error of metabolism as well as the application of contemporary metabolomics technology for the disclosure of the metabolic profiles prevailing in the IVA cohort.
M. Dercksen, Isovaleric Acidemia: An Integrated Approach Toward Predictive Laboratory Medicine.
Prof. R.J.A. Wanders
Prof. C.J. Reinecke (North-West University, South Africa)
Dr M. Duran
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