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Metabolic diseases

Inheritance patterns and prenatal diagnosis

Inheritance patterns
These depend on which chromosome the gene is to be found and the type of defect. Most are recessive but some are X-linked or dominant and a few are sporadic. Genetic counselling should always be sought.

Prenatal diagnosis
Prenatal diagnosis is often available but is dependent on the precise metabolic disease and several other factors.

View How is it treated? How is it treated?  |  Is there support? View Is there support?

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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