Why choose Mayo Clinic

By Mayo Clinic Staff


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Patient stories

Unique Form of Genetic Testing Uncovers the Reason for Years of Mysterious Symptoms

When she was a teenager, Sharon Mills started having excruciating pain after eating. Medical tests found abnormalities with her liver but no reason for the irregularities or pain. She continued to experience the troubling symptoms for decades. As an adult, Sharon moved to different parts of the country several times. With each move, she visited [...]

  • Experience. Mayo Clinic is among the top medical centers in testing, diagnosis and treatment of inherited metabolic disorders. Each year, Mayo Clinic doctors care for about 800 people with inherited metabolic disorders. Experience is important because there are so many types of inherited metabolic disorders and their symptoms can mimic more common diseases or conditions, making them difficult to diagnose.
  • Expertise and team approach. The key to accurate diagnoses of inherited metabolic disorders includes coordination among different medical specialties. Depending on the type and severity of the disorder and your age, your Mayo Clinic team of experts may include specialists in pediatrics, developmental pediatrics, neurology, endocrinology, medical genetics, nutrition and other areas.
  • Newest tests. Mayo Medical Laboratories offers comprehensive testing for inherited metabolic disorders. The Biochemical Genetics Laboratory at Mayo Clinic, one of the largest laboratories of its kind nationwide, uses other state-of-the-art methods to identify inherited metabolic disorders and offers supplemental newborn screening. Identifying and treating inherited metabolic disorders in newborns before symptoms appear can dramatically improve outcomes. The Molecular Genetics Laboratory offers DNA and molecular testing.


Inherited metabolic disorders fall into different categories, depending on whether a specific substance (such as amino acids, fats, proteins or carbohydrates) builds up in harmful amounts or is too low or missing. There are hundreds of inherited metabolic disorders, caused by different genetic defects. Examples include the following:

March 31, 2015