Dihydropyrimidine Dehydrogenase Deficiency [deficit dihydropyrimidindehydrogenázy]

topical
2
Terms

dědičná thymin-uracilurie
dihydropyrimidindehydrogenasa - deficience
dihydropyrimidindehydrogenasa - deficit
dihydropyrimidindehydrogenasa - nedostatek
dihydropyrimidinurie
nedostatek dihydropyrimidin dehydrogenázy
nedostatek DPD
pyrimidinémie

 

Dihydropyrimidinuria
DPD Deficiency
Familial Pyrimidemia
Familial Pyrimidinemia
Hereditary Thymine-Uraciluria
Pyrimidinemia, Familial
Thymine-Uraciluria, Hereditary

Persistent link   https://www.medvik.cz/link/D054067
Definition

An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.

DUI
D054067 MeSH Browser
CUI
M0500884
Previous indexing
Dihydrouracil Dehydrogenase (NADP) (1984-2007)
History note
2008
Public note
2008

5 alpha Fluorouracil toxicity Disease MeSH Browser