The 20 Best Dihydropyrimidine Dehydrogenase Deficiency Doctors Near Me in Los Angeles, CA

Dihydropyrimidine dehydrogenase (DPD) deficiency is a condition in which the body cannot break down the nucleotides, thymine and uracil. The severity of DPD deficiency can vary. Most people have no obvious signs or symptoms, but some develop serious neurological problems as infants. In infants with severe DPD deficiency, the signs and symptoms may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. It is not clear why some individuals with DPD deficiency have symptoms and others don't. DPD deficiency is caused by genetic changes in the DPYD gene and is inherited in an autosomal recessive manner. Babies with the severe form of DPD deficiency may be diagnosed based on the symptoms and additional laboratory testing. Individuals with the DPD deficiency, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines.