No gene mutation was observed with uroporphyrinogen decarboxylase
( UROD ) gene analysis.
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.
In most cases, the PCT that occurs in patients with HCV is acquired due to a decrease in functional hepatic uroporphyrinogen decarboxylase
, she said.
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.
Genetic analysis for disease-related mutations in the uroporphyrinogen decarboxylase
gene were negative (13).
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).