dihydropyrimidine dehydrogenase deficiency; hereditary thymine-uraciluria; familial pyrimidinemia

Pathology

• persistent urinary excretion of excessive amounts of uracil, thymine & 5-hydroxymethyluracil

Genetics

• caused by defects in the DPYD gene

Clinical manifestations

• severe reaction to anticancer drug 5-fluorouracil
  • stomatitis, leukopenia, thrombocytopenia, hair loss, diarrhea, fever, marked weight loss, cerebellar ataxia, neurologic symptoms, progressing to semicoma

Laboratory

• DPYD gene mutation

More general terms

• fibrosis
• enzyme deficiency

Database

• OMIM: https://mirror.omim.org/entry/274270