Format

Send to:

Choose Destination

Links from PubMed

Items: 2

1.

Reduced dihydropyrimidine dehydrogenase activity

An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) activity. [from HPO]

MedGen UID:
409522
Concept ID:
C1959620
Disease or Syndrome
2.

Dihydropyrimidine dehydrogenase deficiency

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999). Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004). [from OMIM]

MedGen UID:
404073
Concept ID:
C2720286
Disease or Syndrome

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center