Inherited Metabolic Disorders

Overview

Inherited metabolic disorders refer to different types of medical conditions caused by genetic defects — most commonly inherited from both parents — that interfere with the body's metabolism. Metabolism is the complex set of chemical reactions that your body uses to maintain life, including energy production. Special enzymes break down food or certain chemicals so your body can use them right away for fuel or store them. Also, certain chemical processes break down substances that your body no longer needs, or make those it lacks.

When these chemical processes don't work properly due to a hormone or enzyme deficiency, a metabolic disorder occurs. Inherited metabolic disorders fall into different categories, depending on the specific substance and whether it builds up in harmful amounts (because it can't be broken down), it's too low, or it's missing. Some metabolic disorders can be diagnosed by routine screening tests done at birth. Others are identified only after a child or adult shows symptoms of a disorder.

Why choose Mayo Clinic for inherited metabolic disorders

• Experience. Mayo Clinic is among the top medical centers in testing, diagnosis and treatment of 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 inherited metabolic disorders in newborns before symptoms appear can dramatically improve outcomes. The Molecular Generics Laboratory offers DNA and molecular testing.

Mayo Clinic: Answers you can trust

At Mayo Clinic, we assemble a team of specialists who take the time to listen and thoroughly understand your health issues and concerns. We tailor the care you receive to your personal health care needs. You can trust our specialists to collaborate and offer you the best possible outcomes, safety and service.

Mayo Clinic is a not-for-profit medical institution that reinvests all earnings into improving medical practice, research and education. We're constantly involved in innovation and medical research, finding solutions to improve your care and quality of life. Your doctor or someone on your medical team is likely involved in research related to your condition.

Our patients tell us that the quality of their interactions, our attention to detail and the efficiency of their visits mean health care — and trusted answers — like they've never experienced.

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