How Are Metabolic Disorders Diagnosed?
How Are Metabolic Disorders Diagnosed?Metabolic disorders are usually congenital (present from birth) and can be detected through routine screening. If an inherited metabolic disorder is not detected at birth, it can be diagnosed later in life when symptoms appear.
Once symptoms develop, blood or DNA tests are available to diagnose most genetic metabolic disorders.
- Review of medical history: Your doctor will check for symptoms and medical history for the presence of metabolic diseases.
- Family history: Because metabolic disorders tend to run in families, your doctor will examine your family history for metabolic diseases. Tests for many metabolic disorders can be done prenatally before a baby's birth. Using a test called amniocentesis, for example, a small sample of the fluid surrounding the baby can be removed and examined for abnormalities.
Genetic tests can be used to help in diagnosing this condition.
- Blood tests: Your doctor may order blood tests to check for abnormalities associated with certain disorders.
- Physical tests: Symptoms of inherited metabolic disorders can also develop after birth. During a physical exam, your doctor may detect these signs of muscle weakness and eye problems.
How Are Metabolic Disorders Treated?
How Are Metabolic Disorders Treated?Treating metabolic disorders primarily involves lifestyle changes, including diet, physical activity, and medication.
Lifestyle changes
Adopting a heart-healthy lifestyle with a balanced diet and plenty of physical activity is the first line of treatment for metabolic syndrome:
- Consume various fruits, vegetables, whole grains, fish, and nuts.
- Limit your sodium and saturated fats intake, red meats, and sweetened drinks.
- Maintaining a healthy weight can also help to reduce high blood glucose levels and high blood pressure and correct any cholesterol abnormalities.
- Aim for at least 150 minutes of moderate exercise per week.
A dietitian can help you find a diet and exercise plan that works for you.
Other lifestyle changes include reducing stress, avoiding smoking, and reducing alcohol intake.
Medications
If healthy lifestyle changes don't work, you may consider medication. Sometimes, your doctor may recommend a drug treatment option called Metformin, especially if labs show high blood glucose levels or obesity that don't respond to dietary and lifestyle changes.
Trust NewYork-Presbyterian for Metabolic Disorder Treatment
If you're experiencing any symptoms of metabolic syndrome, contact us today. Our health care professionals are skilled at treating metabolic disorders. Without treatment, symptoms will worsen and lead to significant complications.