Inherited Metabolic Disorders

Inherited metabolic disorders are medical conditions caused by changes in specific genes that affect metabolism. Different gene changes cause different types of inherited metabolic disorders. These gene changes are most commonly passed down from both parents. But sometimes the gene change comes only from one parent, most often from the mother. These disorders also are called inborn errors of metabolism.

Metabolism is the complex set of chemical reactions that your body uses to maintain life. These include:

• Making energy. Special enzymes break down food or certain chemicals so your body can use them right away for fuel or store them for later use.
• Making or getting rid of substances. Certain chemical processes make substances your body needs. Other chemical processes break down substances that your body no longer needs.

When these processes don’t work properly, a metabolic disorder occurs. It may be due to an enzyme that’s too low or missing or to another problem. Inherited metabolic disorders fall into different groups. They’re grouped by the substance affected and whether it builds up too much because it can’t be broken down or it’s too low or missing.