No gene mutation was observed with
uroporphyrinogen decarboxylase ( UROD ) gene analysis.
Herrero, "Identification and characterization of novel
uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives," Clinical Genetics, vol.
The mRNAs included control housekeeping genes [actin, beta (ACTB) [4] and beta-2-microglobulin (B2M)] and myeloid [defensin, alpha 3, neutrophil-specific (DEFA3) and serglycin (SRGN)], erythroid [hemoglobin, beta (HBB) and
uroporphyrinogen decarboxylase (UROD)], and megakaryocyte [integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B) and integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3)] lineage-specific genes.
Chen, "
Uroporphyrinogen decarboxylase as a potential target for specific components of traditional Chinese medicine: a virtual screening and molecular dynamics study," PLoS ONE, vol.
Rios de Molina, "Comparison between crab hepatopancreas and rat liver
uroporphyrinogen decarboxylase," Comparative Biochemistry and Physiology B, vol.
We have studied patients with congenital erythropoietic porphyria and hepato-erythropoietic porphyria, arising from double defects in the enzymes uroporphyrinogen cosynthase and
uroporphyrinogen decarboxylase respectively, as well as homozygous VP.
1991) showing that precoproporphyrin is formed as a consequence of Hg inhibition of
uroporphyrinogen decarboxylase in the kidney during prolonged exposure, producing excess pentacarboxylporphyrinogen, which then competes with coproporphyrinogen as a substrate for coproporphyrinogen oxidase as the basis of precoproporphyrin formation (Woods et al.
Porphyria cutanea tarda, hepatitis C,
uroporphyrinogen decarboxylase and mutations of HFE gene.
In most cases, the PCT that occurs in patients with HCV is acquired due to a decrease in functional hepatic
uroporphyrinogen decarboxylase, she said.
[7] Nonstandard abbreviations: EPNET, European Porphyria Network; ALA, [delta]-aminolevulinic acid; PBG, porphobilinogen; EQAS, external quality assessment scheme; [TE.sub.a], total allowable error; EPP, erythropoietic protoporphyria; PCT, porphyria cutanea tarda; PBGD, porphobilinogen deaminase; UROD,
uroporphyrinogen decarboxylase; AIP, acute intermittent porphyria; VP, variegate porphyria; HCP, hereditary coproporphyria; CIII:I, coproporphyrin isomer III:I.
These include aminolevulinate (ALA) dehydratase, porphobilinogen deaminase (hydroxymethylbilane synthase), and
uroporphyrinogen decarboxylase in spleen and ALA synthase in liver.
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda.
