Dihydropyrimidine dehydrogenase deficiency (DPYD)

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What is Dihydropyrimidine dehydrogenase deficiency?

Dihydropyrimidine dehydrogenase deficiency is a severe inherited disease mainly characterized by mental and motor retardation and convulsions. The age of onset is adult.

Dihydropyrimidine dehydrogenase deficiency follows an autosomal recessive pattern of inheritance. A couple is at risk of having affected offspring when both members are carriers of the disease. When both members are carriers, the risk of having an affected child is 1 out of every 4 children


Infografico Carriers


What is the next step if I’m a carrier of Dihydropyrimidine dehydrogenase deficiency?

If you are found to be a carrier of Dihydropyrimidine dehydrogenase deficiency, it is important that your partner be tested for the same genetic disorder.


What if my partner is not a carrier?

If your partner’s test for Dihydropyrimidine dehydrogenase deficiency is negative, the chance to have an affected child is low. However there is currently no test able to detect all existing mutations, so there is always a residual risk that the person who has done the test is a carrier of other less frequent mutations.


What if both me and my partner are carriers of Dihydropyrimidine dehydrogenase deficiency?

When both parents are carriers of Dihydropyrimidine dehydrogenase deficiency, the probability of having a child with this disease is 25%.

We recommend that you discuss your results with your doctor or genetic counselor in order to know more about reproductive options.


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