dihydropyrimidine dehydrogenase deficiency

Term ID

DOID:14218

Synonyms

• Dihydrouracil Dehydrogenase deficiency
• familial pyrimidinaemia
• thymine-uracilurea

Definition

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. http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency

References

• GARD:19
• MESH:D054067
• MIM:274270
• NCI:C84672
• SNOMEDCT_US_2023_03_01:238016000
• UMLS_CUI:C1959620
• UMLS_CUI:C3495551

Ontology

Human Disease   ( DOID:14218 )