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. At the NMP we use 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.
The work of our highly skilled Metabolomics team has led to major advances in our understanding of how genetic defects can lead to diseases and how to better treat those diseases.