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.

Farlex Partner Medical Dictionary © Farlex 2012

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Porphyrias

References in periodicals archive ?

It is an autosomal recessive disorder, which results from deficiency of enzyme uroporphyrinogen III cosynthase (or uroporphyrinogen III synthase).

A case of congenital erythropoietic porphyria

[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).

Gunthers with haemolytic anaemia extremely rare: a case report

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