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Inherited Metabolic Diseases

Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific enzymes that help break down (metabolize) parts of food. There are many different types of inborn errors of metabolism: such as those involving disorders of amino acids, carbohydrate, or fatty acid metabolism. Lifelong dietary management with restrictions specific to the disorder is often the cornerstone of treatment. Optimal dietary management is dependent upon many factors, and typically a specialized multidisciplinary medical team develops and updates the individualized plan of care.

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Inherited Metabolic Diseases

Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific enzymes that help break down (metabolize) parts of food. There are many different types of inborn errors of metabolism: such as those involving disorders of amino acids, carbohydrate, or fatty acid metabolism. Lifelong dietary management with restrictions specific to the disorder is often the cornerstone of treatment. Optimal dietary management is dependent upon many factors, and typically a specialized multidisciplinary medical team develops and updates the individualized plan of care.

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Inherited Metabolic Diseases
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