Metabolic Disorders

Treatment

Mayo Clinic offers patients with metabolic disorders leading-edge treatment and opportunities to participate in appropriate clinical trials. Several therapies may be recommended, depending on the patient's situation and needs.

Nutrition and Vitamins (Co-factor Therapy)

Many patients will benefit from a diet which eliminates substances that trigger the metabolic disorder. Some patients need to avoid fasting in order to control symptoms of their metabolic disorder. For example, some patients have seizures if they go too long without eating. Good general nutrition and growth are important for all patients with metabolic disease.

Mayo Clinic provides nutritional counseling to patients and their families, and will coordinate with the family's local health care providers to assist in following dietary restrictions for their child.

Another treatment option is co-factor therapy, in which vitamins or other substances are used to reduce the impact of the metabolic disorder on the body. The response to this therapy varies among patients.

Electrocardiogram or Echocardiogram

For patients at risk of developing heart problems as a result of a metabolic disorder, an annual electrocardiogram (EKG) is often recommended. An EKG records the electrical activity that generates a heartbeat in the heart. During the EKG test, the patient has several patches (electrodes) placed on the chest, arms and legs. The electrodes are connected to wires (leads), which are connected to the EKG machine to measure the heart activity.

If heart problems are present, an echocardiogram may be performed. Patients with heart problems are treated by cardiologists.

Vision and Hearing Checkups

Patients with metabolic disorders that can affect their vision or hearing may be referred to Mayo Clinic ophthalmologists and audiologists for initial assessment following a diagnosis and subsequently for regular checkups.

Physical Therapy, Medication and Surgery

Patients with metabolic disorders which affect the nerves and muscles may benefit from physical therapy or surgery to relieve symptoms and pain. Certain metabolic disorders respond to treatment with medication.

Bone Marrow Transplant

Bone marrow transplant may be an option to help slow or halt the progression of certain metabolic disorders. It has only shown benefit for patients in the early stages, making early diagnosis critical.

Supportive Care

There is no effective cure or treatment for some metabolic disorders, such as Tay Sachs disease and others. In those cases, Mayo Clinic provides supportive care for the patients and their families in coordination with their local health providers.