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Leigh syndrome

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Leigh syndrome is caused by defects in the cell's pathway for producing energy. This process occurs in parts of the cell called mitochondria. The defect can involve several different steps in the pathway (e.g. pyruvate dehydrogenase or the mitochondrial respiratory chain). The pattern of inheritance depends on which step is affected: most cases are autosomal recessive but a few are X-linked or show 'maternal inheritance' (due to mtDNA mutations).

Prenatal diagnosis
This is available in some cases of Leigh syndrome but it is not possible in all cases.

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

Medical text written November 2000 by Dr A Morris. Last updated August 2005 by Dr A Morris, Consultant Paediatrician with Special Interest in Metabolic disease, Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK.

 

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