Inborn Errors of Metabolism

Inborn errors of metabolism, also known as genetic metabolic disorders, refer to conditions that involve abnormal biochemical pathways associated with metabolism. Individuals with these disorders commonly experience problems with movement, growth, vision, and hearing. Inborn errors of metabolism can be caused by inherited genetic mutations, leading to an absence or malfunction of specific enzymes necessary for biochemical reactions. Such disorders can also arise from a deficiency of nutrients or vitamins required for normal chemical reactions in the body. These disorders can be debilitating or even fatal if left untreated. Diagnosis is often achieved through careful analysis of medical history, physical examination, and other laboratory tests. Treatment often includes a combination of dietary modifications and medications, but may also require more specific therapies such as enzyme replacement, gene therapy, and other interventions. Early diagnosis and treatment of inborn errors of metabolism can improve lifelong health outcomes.