Overview
Diagnosis
Inherited metabolic disorders may be identified at different stages of life. Some conditions can be diagnosed before birth, while many are detected through newborn screening tests done shortly after delivery. Others become apparent only when a child or adult begins to show symptoms.
Diagnosis may involve several steps such as:
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A physical exam, including a discussion of symptoms, medical history and possible family history
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Blood and urine tests to evaluate how the metabolism is functioning
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Genetic testing to identify the specific metabolic disorder and guide care for family members who may also be at risk
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Carrier testing before pregnancy, also called preconception screening, to identify genetic changes that may increase the risk of inherited metabolic disorders in future children
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Genetic counseling to discuss testing options and the likelihood of inherited conditions
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Specialist evaluations when certain metabolic disorders raise the risk of heart, vision, hearing or other health issues
Treatment
Treatment for inherited metabolic disorders varies widely because there are many types and each affects the body differently. Care is personalized based on the disorder, the level of severity and the age of the person receiving treatment.
Examples of treatment options include:
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Special diets designed to manage or reduce harmful metabolic byproducts
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Enzyme replacement therapy
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Vitamin or nutrient supplementation
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Medications to support metabolic function
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Liver transplantation for certain severe conditions
Some disorders require initial treatment in a hospital. For other conditions, no specific treatments are currently available. Because these disorders are rare and often complex, care may involve a team of specialists from fields such as medical genetics, nutrition, pediatrics, neurology, endocrinology, cardiology, ENT, ophthalmology, gastroenterology and nephrology.
Lifelong monitoring with regular healthcare visits is important to address problems early and adjust treatment to support long-term health and quality of life.
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