PCT, the most common type of porphyria worldwide, is caused by the deficiency of the enzyme UROD
, a crucial enzyme in heme biosynthesis, which results in an accumulation of photosensitive byproducts such as uroporphyrinogen which leads to the fragility and blistering of sun-exposed skin.
Especially significant, Schuetz said, was the finding that MYCN-driven leukemias with the most over-activated UROD were far more lethal.
One would be to target UROD, which would reduce heme biosynthesis.
It also implies increased plasma or urine porphyrins formed before the UROD
step such as uroporphyrin, heptacarboxylporphyrin, hexacarboxylporphyrin, and pentacarboxylporphyrin (urine analysis not validated for patients with end-stage renal disease (ESRD)) with concomitant normal levels of coproporphyrins .
The performances of DEFA3 and HBB were better than those of SRGN and UROD, respectively, and ITGB3 was similar to ITGA2B (Fig.
 Human genes: ACTB, actin, beta; B2M, beta-2-microglubulin; DEFA3, defensin, alpha 3, neutrophil-specific; SRGN, serglycin; HBB, hemoglobin, beta; UROD, uroporphyrinogen decarboxylase; ITGA2B, integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41); ITGB3, integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61); CD34, CD34 molecule; CD3E, CD3e molecule, epsilon (CD3-TCR complex); CD4, CD4 molecule; CD8A, CD8a molecule; CD19, CD19 molecule.
While there is nothing wrong with providing a more comfortable detoxification procedure for opioid-dependent persons, what is wrong is that UROD
procedures have been linked to a number of deaths.
Gevirtz to the American Society of Anesthesiologists, however, UROD
can cause drastic physical changes in the patient and should only be done with an anesthesiologist present.
Working with the most toxic dioxin,TCDD--now generally considered the most porphyrin-disrupting compound as well--Lavinia Cantoni and her colleagues at the Institute of Pharmacological Research Mario Negri in Milan, Italy, have found that the liver, and secondarily the kidney, appear to be the main sites of UROD
impairment by liver-damaging PAHs.
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).
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 (UROD
PCT is caused by a decreased activity of the fifth enzyme in the heme biosynthetic pathway, uroporphyrinogen decarboxylase (UROD
; EC 22.214.171.124).