dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, 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. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.
MONDO:0018381
osteochondrosis
is_a
MONDO:0018383
osteonecrosis of genetic origin
is_a
MONDO:0019238
inborn disorder of pyrimidine metabolism
is_a
DYPD deficiency
exact
dihydropyrimidine dehydrogenase deficiency
exact
dihydrouracil dehydrogenase deficiency
exact
familial pyrimidinaemia
exact
familial pyrimidinemia
exact
hereditary thymine-uraciluria
related
thymine-uracilurea
exact