Inherited Metabolic Diseases

Inherited metabolic diseases are genetic disorders that disrupt normal chemical processes in the body. These conditions occur when specific enzymes, which help break down substances like proteins, fats, and carbohydrates, are missing or not functioning properly. As a result, harmful substances can accumulate, leading to various health issues. Examples include phenylketonuria (PKU) and glycogen storage diseases. These disorders are typically present from birth and can affect growth, development, and overall health. Early diagnosis and treatment can help manage symptoms and improve quality of life for those affected.