Co-Investigator: Prof Izelle Smuts; MBChB, MMed (Paed), FC Paed (SA), PhD
Clinical neuromuscular expertise, patients and
The Paediatric Neurology Unit
at this institution is accredited with the HPCSA as a training unit for
paediatric neurologists. The entire spectrum of paediatric neurology and
neurodevelopmental disorders, including epilepsy, neuromuscular disorders,
ADHD, autism and cerebral palsy is managed. The neurology clinic (lead Prof
Smuts) manages the entire spectrum of paediatric neurology and developmental
disorders. The clinic, which serves a child population of ± 5.1 million for
three northern provinces of SA, is a dedicated multi-disciplinary centre and
hosts four neuromuscular clinics per annum, which are ±3% (±210) of total
Genetics and preclinical science expertise and facilities: The genetic services of the NHLS is mostly used. Research programmes on the molecular genetics of mitochondrial disorders are done in collaboration with the North-West University.
Current research programmes: The research focus has been on mitochondrial disorders in the South African context. The patient profile is unique and management requires often a pragmatic approach. Novel answers are sought to explain the unique character of the patients.
Top five publications from the past five years: Schoonen M, Smuts I, Louw R, Elson JL, van Dyk E, Jonck L-M, Rodenburg R, van der Westhuizen FH. Panel-based nuclear and mitochondrial next-generation sequencing outcomes of an ethnically diverse paediatric patient cohort with mitochondrial disease. Journal of Molecular Diagnostics in press.
Louw R, Smuts I, Wilsenach, K-L, Jonck L-M, Schoonen M, van der Westhuizen FH. The dilemma of diagnosing Q10 deficiency in muscle. 2018. Molecular Genetics and Metabolism 125, 38-43.
van der Westhuizen FH, Smuts I, Honey E, Louw R, Schoonen M, Jonck L-M, Dercksen M. 2018. A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency. Journal of the Neurological Sciences 384, 121-125.
Venter L, Lindeque Z, Jansen van Rensburg PJ, Van der Westhuizen FH, Smuts I, Louw R. Untargeted urine metabolomics reveals a biosignature for muscle respiratory chain deficiencies. Metabolomics 11:111-121, 2015.
Van der Westhuizen FH, Sinxadi PZ, Dandara C, Smuts I, Riordan G, Meldau, S, Malik AN, Sweeney MG, Tsai Y, Towers G W, Louw R, Gorman GS, Payne BA, Soodyall H, Pepper M, Elson Jl. Understanding the implications of mitochondrial DNA variation in the health of Black Southern African populations. The 2014 workshop. Human Mutation 36:569-571, 2015.
How the new international centre will benefit research and clinical programmes: Participation with the ICGNMD will extend the capacities for both genetic diagnostics and research on a broader scope of NMD than what was available. It will offer new opportunities to provide answers to under-studied patients and provide an opportunity to collaborate on a greater national and international scale.