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Alkaptonuria

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Alkaptonuria is inherited as an autosomal recessive trait. Changes in the HGD gene on chromosome 3 are associated with the features of Alkaptonuria. This condition was one of the first 'inborn errors of metabolism' and one of the first conditions for which recessive inheritance was proposed.

Prenatal diagnosis
This may be possible and further information, including genetic counselling, should be sought from your doctor.

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

Medical text written September 2003 by Contact a Family. Approved September 2003 by Dr L Ranganath, Consultant Physician in Clinical Chemistry, Liverpool University Medical School, Liverpool, UK.

 

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