DISEASES

Disease-gene associations mined from literature

Human genes for dihydropyrimidine dehydrogenase deficiency

Dihydropyrimidine dehydrogenase deficiency [DOID:14218]

A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.

Synonyms:  dihydropyrimidine dehydrogenase deficiency,  DOID:14218,  Dihydropyrimidine dehydrogenase deficiency (disorder),  Dihydrouracil Dehydrogenase deficiency,  familial pyrimidinaemia ...

Linkouts:  OMIM