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Inherited Metabolic diseases
What are the causes?
Metabolism is a very complex process that occurs in small steps, each one being regulated by an enzyme (a complex protein that helps chemical reactions occur more readily). Some involve anabolism (the build-up of essential components required by the body) and others involve catabolism (the break down of essential components required by the body). As a consequence of a genetic defect, the enzyme may be completely missing or work inefficiently. These enzymes are usually grouped in pathways and if there is a blockage in this pathway (due to the lack of an enzyme), then a particular compound may accumulate before the block and the resulting substance that is normally formed will be reduced. In some cases, the enzymes required to break down a certain component are missing and therefore this component is found in abnormally large quantities.
What are the symptoms?
| How is it treated? 
