Department of Paediatrics: University of Pretoria / Steve Biko Academic Hospital

The Paediatric Neurology Unit aims to provide a comprehensive service to children with neurological and developmental problems. There are clinics every day of the week and appointments can be made at 012 354 5150. It offers ideal training opportunities for undergraduate as well as postgraduate students.

The rehabilitation facility for paediatric neurology patients at the Tshwane Rehabilitation Centre has made a big difference in terms of the long-term care of our neurology inpatients. The mothers are admitted along with the patients for an intensive period of rehabilitation and training. The aim is to empower the mothers in the management of their children at home in the community.

Regular Neuro-Network Workshops are held and they are well attended. The broad aim is to have a formal network for our patients including the schools and different therapeutic options outside our Hospital. It also serves as a training opportunity and the focus is on problems experienced by children with neurological disease. Representatives from almost all the schools for children with special needs and relevant therapists in our direct referral area, from both the private as well as the public sector, attend these meetings.

The main focus of research in the group is the mitochondrial project with several subprojects. The metabolomic project in collaboration with North West University is making excellent progress.

Metabolomics is the scientific study of chemical processes involving metabolites according to Wikipedia. 

Neuro Network

• 2014:

Publications:

• Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia.
• An overview of a cohort of South African patients with mitochondrial disorders.
• Reinecke CJ, Koekemoer G, Van der Westhuizen FH, Louw R, Lindeque JZ, Mienie LJ and Smuts I. Metabolomics of urinary organic acids in respiratory chain deficiencies in children. Metabolomics Apr: DOI:10. 1007/s11306-011-0309-0, 2011.
• Riordan GT and Smuts I. When to consider and inborn error of metabolism: an approach to paediatric neurometabolic disorders. Continuing Medical Education Apr:162-164, 2011.
•   Van der Walt E, Smuts I, Taylor R, Elson J, Louw R, Van der Westhuizen FH. Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease. European Journal of Human Genetics DOI:10.1038/ejhg.2011.262, 20:650-656, 2012.
• Smuts I, Van der Westhuizen FH, Louw R, Mienie LJ, Engelke UFH, Wevers RA, Mason SW, Koekemoer G, Reinecke CJ. Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach. Journal of Inherited Metabolic Disease. Journal of Inherited Metabolic Disease 9(2):379-391, 2013.
• Wortmann SB, Kluijtmans L, Rodenburg R, Sass J, Nouws J, van Kaauwen E, Kleefstra T, Tranebjaerg L, de Vries M, Isohanni P, Walter K, Alkuraya F, Smuts I, Reinecke CJ, van der Westhuizen FH, Thorburn D, Smeitink JAM, Morava E, Wevers RA. 3-Methylglutaconic aciduria - lessons from 50 genes and 977 patients. Journal of Inherited Metabolic Disease Jan: DOI: 10.1007/s10545-01209579-6, 36:913-921, 2013.

Useful links:

• Metabolomics
• The human metabolome project