Uroporphyrinogen III cosynthase | definition of uroporphyrinogen III cosynthase by Medical dictionary
uroporphyrinogen III cosynthase
ur·o·por·phy·rin·o·gen III co·syn·thase
an enzyme in heme biosynthesis that participates in the formation of uroporphyrinogen III; a deficiency of this protein results in congenital erythropoietic porphyria.
References in periodicals archive
It is an autosomal recessive disorder, which results from deficiency of enzyme uroporphyrinogen III cosynthase
(or uroporphyrinogen III synthase).
[1,2] Primary abnormality in CEP is due to decreased uroporphyrinogen III cosynthase activity resulting in accumulation and hyperexcretion of biologically inactive type I porphyrins.
CEP is due to deficiency of the enzyme uroporphyrinogen III cosynthase (UIIIC).