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Metabolic diseases

What are the causes?

Metabolism is a very complex process that occurs in small steps, each one being regulated by an enzyme (complex protein). Some involve anabolism (the build-up of essential components of the body) and others involve catabolism (the break down of essential components of the body). As a consequence of a genetic defect the enzyme may be completely missing or have worked inefficiently. The enzymes are usually grouped in pathways and if there is a blockage then the compound accumulates before the block and the substance that is normally formed will be reduced.

View What are the symptoms? What are the symptoms?  |  How is it treated? View How is it treated?

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated November 2004 by Professor J Leonard, Professor of Paediatric Metabolic Disease, Institute of Child Health, London, UK.

 

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