The Laboratory for Inborn Errors of Metabolism (PLIEM) is situated in the Centre for Human Metabonomics (CHM) at the Potchefstroom Campus of the North-West University. The Scientists at the CHM are well known for their expertise and many years of experience in the field of inborn errors of metabolism (IEM) and have provided a diagnostic service to both the public and private health sector since 1983.
The CHM is an active research contributor to the field of inborn errors of metabolism and has published many papers in peer reviewed journals over the past three decades and also has a formal relationship with the metabolic laboratory of the University of Amsterdam, a world renowned institution in the field of metabolic medicine.
Prof. L.J. Mienie is the head of the laboratory and initiated PLIEM. Prof Mienie and his team of medical scientists specialize in the identification of inherited / congenital metabolic defects, neurotoxicology of zenobiotics and are collaborating authors of various research articles. PLIEM further collaborates with internationally acclaimed laboratories in the Netherlands, Sweden, Belgium, Australia and the USA. Since 1983, national and international (e.g. Kenya, Namibia and Mauritius) paediatricians and physicians refer different specimens of patients (babies, infants, children and adults) with possible genetic disorders, to PLIEM for metabolic screening. The lab also partakes in an international external quality control program for metabolic disorders (ERNDIM), to assure service of the highest quality. The members of the lab take part in international training programs and present their research and knowledge at national and international scientific conferences and CPD lectures.
Various sophisticated techniques and instrumentation are used in the diagnostic processes of identification of various metabolites associated with IEMs. Symptomatic presentation of IEMs are very unpredictable and in some cases non-specific. They can occur at any time from infancy to adulthood. Timely emergency intervention and treatment are paramount in improving the quality of life in these patients. This landmark laboratory has tested more than 24 000 patients to date, of which more than 1 450 have been diagnosed with inborn errors of metabolism. Consequently, this laboratory serves as a reference centre for the diagnosis and treatment of patients with metabolic defects across the entire country. This service has filled a need in South Africa and is growing from strength to strength.
PLIEM is also strongly involved in research areas within the NWU. They contribute to the metabolomics research (Prof Reinecke’s students and metabolomic investigations in some metabolic defects e.g. isovaleric acidemia and peroxisomal abnormalities) which are one of the main focus areas in our department. The lab is also busy with method development to investigate additional metabolic disorders, which are currently not tested for in South Africa. One of these developments is the investigation of creatine metabolic disorders. The latter is very significant and important due to a large group of infants presenting with seizures of unknown or unexplainable origin, which can be associated with creatine metabolic disorders. The lab is also currently busy building up a DNA biobank of patients with possible metabolic defects. This may assist further research in novel mutation identification and investigation of frequency of metabolic diseases.
The lab is also involved in the investigation of metabolic status and defects in several animal species including: cheetahs, bovine species, crocodiles and scorpions. This research is done together with other departments within the NWU as well as Pretoria Zoo (Dr Adrian Tordiffe) and assist in the prevention of extinction of some animal species.