The Laboratory for Inborn Errors of Metabolism (PLIEM) is situated in the Centre for Human Metabolomics (CHM) at the Potchefstroom Campus of the North-West University. The dedicated 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.
PLIEM is a cutting-edge medical research facility that is constantly innovating and investigating new ways to improve human health. The highly skilled Metabolomics team are at the forefront of this research, and their work has led to major advances in our understanding of how genetic defects can lead to diseases and how to better treat those diseases.
The role of PLIEM
Inborn errors of metabolism (IEMs) are a group of rare, inherited diseases that result from abnormalities in the body's ability to break down nutrients from food or to synthesise certain essential molecules. PLIEM uses various sophisticated techniques and instrumentation 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.
Metabolomics - a universal application
The CHM/NMP is also involved in the investigation of metabolic status and defects in several wildlife species, including cheetahs, bovine species, crocodiles, rhino and many other.
The application of Metabolomics as a discipline not only helps us understand the metabolic pathways as a tool for disease elucidation but also helps us understand the physiologic mechanisms that can supported to improve the biological system wellbeing.
Our Metabolomics offerings have also seen its application in crop optimization which is significant for large scale farming and alleviation of food supply crises for maximum yield and a crop that is resilient to environmental strains.
The studies being undertaken will help to improve our understanding of the metabolism and biological response of these plants and animals, and the potential causes of defects which could lead to disease or death. In some cases, the research may also help to develop new treatments for metabolic disorders.