Inborn Errors of Metabolism

Inborn errors of metabolism are rare genetic disorders that affect how the body processes food into energy. They occur due to mutations in certain genes that produce enzymes, which are necessary for breaking down substances like proteins, fats, and carbohydrates. When these enzymes are deficient or absent, it can lead to harmful substances building up in the body or important nutrients not being processed properly. This can result in a range of health problems, from mild to severe. Early diagnosis and treatment are crucial for managing these conditions and preventing complications.