Inborn Errors of Metabolism

Inborn Errors of Metabolism (IEMs) are genetic disorders in which the body's metabolism is disrupted. This disruption results in an accumulation of toxic substances in the body, leading to a variety of clinical manifestations, ranging from mild to serious. IEMs can affect any major organ system, including the nervous system, liver, kidneys, and pancreas. Treatment of IEMs is essential to promote optimal health, delay the onset of debilitating symptoms, and improve functional outcomes. Early diagnosis and prompt treatment can lead to a better prognosis for patients with IEMs. Furthermore, researching IEMs can provide insight into normal metabolic pathways, which is important for developing therapeutic strategies for metabolic diseases.