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dihydropyrimidine dehydrogenase deficiency; hereditary thymine-uraciluria; familial pyrimidinemia

Genetics: - caused by defects in the DPYD gene Pathology: - persistent urinary excretion of excessive amounts of uracil, thymine & 5-hydroxymethyluracil 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

General

fibrosis enzyme deficiency

Database Correlations

OMIM 274270

References

  1. OMIM :accession 274270
  2. ARUP Consult: Dihydropyrimidine Dehydrogenase (DPYD), 3 Variants https://arupconsult.com/ati/dihydropyrimidine-dehydrogenase