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Metabolic diseases or disorders interrupt the normal processes of metabolism within the body, the many chemical reactions responsible for breaking down food and either using, storing, or disposing of the energy it contains. When something goes wrong with any of these processes due to lack of or excess production of an enzyme or hormone, a metabolic disease results. This leads to a substance building up in dangerous quantities, or to various deficiencies.

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1. Causes of Inherited Metabolic Diseases

Metabolic diseases are inherited. Often, the disorder is caused by a faulty gene that has been passed down from family member to family member for generations, perhaps without previously manifesting.  In most cases, the diseases only activate if both parents carry the gene. However, some metabolic diseases are inherited from the mother only.

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