What is DPD Deficiency?
DPD Deficiency (Dihydro Pyrimidine Dehydrogenase Deficiency) is a potentially fatal genetic disease that affects young and old. It affects 2-8% of the population in America. DPD is an enzyme essential for regulating the health of the body; most people produce it naturally. People with DPD Deficiency lack the ability to create this enzyme in the amounts they need.
For some, this enzyme deficiency is severe, and the disease appears in childhood, resulting in the loss of motor skills, seizures, or premature death. For others, DPD deficiency is not apparent, but for them exposure to normally life-saving chemotherapy drugs leads to a potentially fatal reaction.
What do we know about DPD deficiency?
For those affected in childhood, it is a difficult disease to diagnose from symptoms. Most medical professionals are unlikely to suspect DPD Deficiency as a cause. These affected individuals have neurological problems such as recurrent seizures, intellectual disability, a small head size, increased muscle tone, delayed development of motor skills such as walking and/or regression in motor abilities, and autistic behaviors that affect communication and social interaction.
For those not affected in childhood, the administration of uracil-based chemotherapy drugs can lead to permanent injury or death. Even for the less afflicted, DPD Deficiency prevents them from continuing potentially life saving therapy.
DPD Deficiency Foundation
Established in June 2012, DPD Deficiency Foundation focuses on providing up to date information for those affected and their families, while supporting research into a cure.