Department of Paediatrics and Child Health
Human Mitochondrial Disorders
Izelle Smuts is a paediatric neurologist and head of the Paediatric Neurology Unit at Steve Biko Academic Hospital.
She was appointed as a paediatrician in the Department of Paediatrics University of Pretoria in 1997. She was responsible for the development of the Paediatric Neurology Unit, one of the first established training units for Paediatric Neurologists in the country, now providing a service to 6 000 patients per annum.
IRT-related research projects
The genetic profile of the South African population was found to be unique and require further research in order to be able to develop a cost effective and population specific diagnostic service. The group has already utilised second generation sequencing to unravel the local genetic profile and the data sets will be expanded with further utilising Ion Torrent sequencing.
Van der Westhuizen, FH, Smet, J, Levanets, O, Meissner-Roloff, Louw, R, Van Coster, R, Smuts, I (2010). Aberrant ATP synthesis resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia. J Inherit Metabol Disease Jan:DOI:10.1007/
Smuts, I, Louw, R, Du Toit, H, Klopper, B, Mienie, LJ, Van der Westhuizen, FH (2010). An overview of a cohort of South African patients with mitochondrial disorders. J Inherit Metabol Disease Feb: DOI:10.1007/
Smuts, I, Van der Westhuizen, FH (2010). Mitochondrial disorders-diagnostic approaches and their application in the South African context. SA Paediat Rev. 7: 6-15