• Once UROD activity is below 20%, porphyrins (mostly uroporphyrin) accumulate in the liver and the skin. (logicalimages.com)
  • VP is more common in individuals of South African descent and may be differentiated from PCT by the pattern of porphyrins in urine, plasma, and fecal specimens (ratio of urine uroporphyrin to coproporphyrin is approximately 1:1 in VP but up to 8:1 in PCT). (logicalimages.com)
  • The best time to prove the diagnosis is during an acute attack when levels of PBG and porphyrins, mostly uroporphyrin, are high in the urine. (porphyria-australia.org)
  • PCT can be suspected on the clinical presentation, but the definitive test is the demonstration of elevated urinary porphyrin levels in a 24-hour urine collection, with a greater than 3:1 ratio of uroporphyrin to coproporphyrin. (clinicaladvisor.com)
  • PCT is the most frequent porphyria, due to deficiency of hepatic uroporphyrinogen decarboxylase (UROD), with high levels of uroporphyrinogen, uroporphyrin/ coproporphyrin higher than 3:1, elevation of heptacarboxilate, and photosensitivity are classical findings (3-5) . (scielo.org.pe)
  • The diagnosis of CEP is supported by the biochemical findings of markedly decreased uroporphyrinogen (URO)-synthase activity in erythrocytes and/or markedly increased levels of urinary uroporphyrin I and coproporphyrin I isomers. (porphyriafoundation.org)
  • This enzyme defect disrupts heme biosynthesis and leads to an accumulation of uroporphyrin in erythrocytes, which, in turn, increases their osmotic fragility and results in hemolysis. (standardofcare.com)
  • Hemolysis secondary to massive accumulation of isomer I uroporphyrin and coproporhyrin in red blood cells. (standardofcare.com)
  • Seven patients still had active porphyria with a mean uroporphyrin concentration of 259.5 micrograms per liter (microg/l). (cdc.gov)
  • The purification of uroporphyrin I and the nature of the Waldenström's uroporphyrin, as isolated from porphyria material (1945) J. Biol. (uba.ar)
  • The enzyme deficiency is thought to be acquired due to increased oxidative stress in hepatocytes that leads to increased oxidation of uroporphyrinogen or uroporphyrin, which is not a substrate for the enzyme, and to the formation of the inhibitor uroporphomethene. (msdmanuals.com)
  • PCT is associated with a reduction in hepatic uroporphyrin decarboxylase. (mhmedical.com)
  • Uroporphyrin by-products from the frustrated biosynthesis accumulate in the body, severing the pathology with symptoms like skin photosensitivity and phototoxic disfiguring cutaneous lesions. (irbbarcelona.org)
  • Given that these photosensitizers, such as protoporphyrin, coproporphyrin and uroporphyrin, are intermediate species in the heme biosynthesis, it is likely that they are accumulated in the cytoplasmic matrix [ 14 ] [ 15 ] , although their precise locations within the bacterial cell are not fully understood. (encyclopedia.pub)
  • Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al. (nih.gov)
  • Uroporphyrin excretion by unexposed subjects averaged 9.35microg/l. (cdc.gov)
  • The nature of the side chain is indicated by a prefix, as uroporphyrin, hematoporphyrin, etc. (bvsalud.org)
  • Uroporphyrin I stimulation of collagen biosynthesis in human skin fibroblasts. (cdc.gov)