Dihydropyrimidine Dehydrogenase gene mapped on chromosome 1p22 that contains 23 exons spanning at about 950kb.It is mostly found inmonocytes but lesser amount in lymphocytes, granulocytes, and platelets, while no significant action found inerythrocytes.
Dihydropyrimidine Dehydrogenase is involved in the breakdown of molecules such as uracil and thymine that are both pyrimidines. Mutation of these enzymes interfere the breakdown of uracil and thymine resulted in excess quantities of these molecules in theurine, blood and fluid that surrounds the brain and spinal cord.
Dihydropyrimidine Dehydrogenase deficiency is characterized by neurological problems in which more apparent during infancy such as epilepsy, intellectual disability, increased muscle tone, small head size and delayed motor skills development like walking or running. It is also associated with autistic behaviors that affect communication and social interactions. In some cases deficiency of this enzyme is asymptomatic, it means no sign and symptoms occurs yet it is vulnerable to life threateningtoxic reactions to certain drugs like flouropyrimidines that is used to treat cancer wherein these drugs will not broken down resulting in accumulation and building toxic in the body in whichinflammation and ulceration of the gastrointestinal tract may occurs.
Gene name: DPYD
Protein name: Dihydropyrimidine dehydrogenase