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Inborn Errors of Metabolism

Inborn Errors of Metabolism. Trisha Garcia. Inborn errors of metabolism (IEMs): group of rare genetic disorders in which a specific enzyme defect interferes with the normal metabolism of protein, fat, or carbohydrate 1 in 4,000 births Mortality is very high for certain IEMs . History

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Inborn Errors of Metabolism

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  1. Inborn Errors of Metabolism Trisha Garcia

  2. Inborn errors of metabolism (IEMs): group of rare genetic disorders in which a specific enzyme defect interferes with the normal metabolism of protein, fat, or carbohydrate • 1 in 4,000 births • Mortality is very high for certain IEMs

  3. History • IEMs have been known for the past 100 years • The term was first used by Sir Archibald Garrod in 1902 • Categories of IEMs • Disorders that result in toxic accumulation • Pompe disease • Disorders of energy production, utilization

  4. Symptoms • Often mistaken for other medical conditions • Diagnosing IEMs • Patient medical history is important • Diet in relation to symptoms • Newborn screening • Additional laboratory testing

  5. Treatment • Depends on the type of IEMs • Diet changes and restrictions • Research • Overall cause of IEMs? • Prevention or better early detection of IEMs

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