The mRNAs included control housekeeping genes [actin, beta (ACTB)  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.
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.
Porphyria cutanea tarda (PCT) results from decreased activity of uroporphyrinogen decarboxylase
In distribution E, 13 of the 15 reported results were belowthe lower reference limits for porphobilinogen deaminase (PBGD), and 2 of 4 for uroporphyrinogen decarboxylase
These include aminolevulinate (ALA) dehydratase, porphobilinogen deaminase (hydroxymethylbilane synthase), and uroporphyrinogen decarboxylase
in spleen and ALA synthase in liver.
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase
mutations and frequency of common hemochromatosis alleles.
Genetic analysis for disease-related mutations in the uroporphyrinogen decarboxylase
gene were negative (13).
This disease is caused by a partial deficiency of the uroporphyrinogen decarboxylase
(UROD) enzyme in the liver, and it is one of the major potential toxic manifestations of this chemical, as several studies in experimental animals have demonstrated (1,2).
PCT is caused by a decreased activity of the fifth enzyme in the heme biosynthetic pathway, uroporphyrinogen decarboxylase
(UROD; EC 4.
Porphobilinogen deaminase (PBGD) and uroporphyrinogen decarboxylase
activities in erythrocytes were determined as described previously (11).