1/12/2012

Congenital Diseases Metabolism (Inborn Errors of Metabolism)


This group of diseases passed down from parents to their children genetically (through genes), and manifests as abnormalities in the metabolism of certain nutrients. Metabolism of nutrients regulated by enzymes and enzyme systems including a group of proteins which are synthesized in the body (cell body).

The mechanism for the synthesis of proteins controlled by genes that contain codons for the type of protein enzymes that will be synthesized it. Sometimes an interruption in the protein synthesis apparatus, so that different enzymes form with the usual. As a result of different metabolic processes occur in certain nutrients. These metabolic changes lead to the symptoms of biochemical and clinical (functional).

Diseases that have been known to belong to this type are cycle cell anemia, lactose intolerance, phenylketonuria, and so on. Although he has known the basic pathogenesis of these diseases, not always cultivated a satisfactory treatment, because treatment is not causal correct errors contained in the gene.

But for some, Dietetic treatment approach has given satisfactory results, although this treatment should be done all his life.
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