It is an autosomal recessive disorder, which results from deficiency of enzyme uroporphyrinogen
III cosynthase (or uroporphyrinogen
No gene mutation was observed with uroporphyrinogen
decarboxylase ( UROD ) gene analysis.
In the exceedingly rare congenital erythropoietic porphyria (uroporphyrinogen
III synthetase deficiency), the stools and urine turn dark red (porphyrinuria) and bones and teeth acquire a yellow-orange color.
Caption: Figure 1: The heme synthetic pathway showing the enzymes mediating formation of delta-ALA, PBG, and the initial porphyrins (uroporphyrinogen
The most common of these rare disorders is porphyria cutanea tarda (PCT) caused by an activity deficit of the fifth enzyme in the heme synthetic pathway uroporphyrinogen
decarboxylase (UROD) .
Increased bilirubin and uroporphyrinogen
oxidation in vitro.
Further researches on the characteristics of chlorophyll metabolism indicated that the precursors of D-aminolevulinic acid (ALA), porphobilinogen (PBG), uroporphyrinogen
III (Urogen III), coproporphyrinogen III (Coprogen III), protoporphyrin IX (Proto IX), Mg-protoporphyrin IX (Mg-Proto IX) and protochlorophyllide (Pchlide) in chlorophyll biosynthesis in Burley21 were lower than in Maryland609 at vigorous growing period; the activity of D-aminolevulinate dehydratase (ALAD) in Burley21 was 0.43% as compared to Maryland609, but the activity of chlorophyllase in Burley21 was 2.04 times as high as in that of Maryland609.
In both the classical and the alternative pathway, 5-aminolevulinic acid (ALA) serves as the common precursor for heme formation which is converted into the biosynthetic intermediate uroporphyrinogen
III (UROGEN) in three consecutive enzymatic steps.
decarboxylase as a potential target for specific components of traditional Chinese medicine: a virtual screening and molecular dynamics study," PLoS ONE, vol.
[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.
Rios de Molina, "Comparison between crab hepatopancreas and rat liver uroporphyrinogen
decarboxylase," Comparative Biochemistry and Physiology B, vol.
Congenital erythropoietic porphyria, also known as Gunther disease, is one of the first inborn errors of metabolisms to be described.3 This autosomal recessive disorder is caused by deficient activity of uroporphyrinogen
III synthase (URO IIIs)/ uroporphyrinogen
cosynthase in the erythrocyte precursor cells.