Inherited Metabolic Disorders
Treatment of Inherited Metabolic Disorders
Limited treatments are available for inherited metabolic disorders. The essential genetic defect causing the condition can't be corrected with current technology. Instead, treatments try to work around the problem with metabolism.
Treatments for genetic metabolic disorders follow a few general principles:
- Reduce or eliminate intake of any food or drug that can't be metabolized properly.
- Replace the enzyme or other chemical that is missing or inactive, to restore metabolism to as close to normal as possible.
- Remove toxic products of metabolism that accumulate due to the metabolic disorder.
Treatment may include such measures as:
- Special diets that eliminate certain nutrients
- Taking enzyme replacements, or other supplements that support metabolism
- Treating the blood with chemicals to detoxify dangerous metabolic by-products
Whenever possible, a person with an inherited metabolic disorder should receive care at a medical center with experience with these rare conditions.
Children and adults with inherited metabolic disorders can become quite ill, requiring hospitalization and sometimes life support. Treatment during these episodes focuses on emergency care and improving organ function.