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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.

Event details of Hereditary metabolic disease in South Africa
Date 19 September 2014
Time 12:00 -13:00
Location Agnietenkapel

M. Dercksen, Isovaleric Acidemia: An Integrated Approach Toward Predictive Laboratory Medicine.

Supervisors

Prof. R.J.A. Wanders
Prof. C.J. Reinecke (North-West University, South Africa)

Co-supervisor

Dr M. Duran

Agnietenkapel

Oudezijds Voorburgwal 229 - 231
1012 EZ Amsterdam

Entrance

This event is open to the public.