Inherited Metabolic Disorders

Inherited metabolic disorders are genetic conditions that affect the body's ability to convert food into energy or manage waste products. These disorders arise from mutations in specific genes, leading to deficiencies in enzymes or proteins essential for metabolic processes. As a result, harmful substances can accumulate, or vital nutrients may be poorly utilized. Symptoms can vary widely, from mild to severe, and may affect various organs and systems. Early diagnosis and management are crucial to reduce complications and improve quality of life. Examples include phenylketonuria (PKU) and Gaucher disease.