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[Enzyme deficiency of erythrocytes in human porphyria].
Gematol Transfuziol 1992 Nov-Dec; 37(11-12):10-5GT

Abstract

Hereditary enzyme deficiency in porphyrias can be recognized in blood cells. In the red cell four enzymes of heme biosynthesis can be detected: porphobilinogen synthase (delta-aminolevulinic acid dehydrase), uroporphyrinogen synthase, cosynthase, and decarboxylase. A decrease of porphobilinogen synthase is observed in lead intoxication and in a new type of hereditary acute porphyria with nearly total enzyme deficiency in the homozygous state with a residual activity of 1-2% of controls. In another recessive condition, congenital erythropoietic porphyria, the deficient uroporphyrinogen cosynthase shows an activity between 1 and 20%. Acute intermittent porphyria is characterized by diminished uroporphyrinogen synthase which allows the recognition of gene carriers in red cells. In the genetic type of porphyria cutanea tarda triggered by alcohol, oral contraceptives, and liver damage the uroporphyrinogen decarboxylase is decreased to about 50%. In hepatoerythropoietic porphyria, a homozygous variant of porphyria cutanea tarda, decarboxylase activity was found below 10% of controls. With exception of congenital erythropoietic, hepatoerythropoietic porphyria, and lead poisoning enzyme deficiencies of porphyrin metabolism in red cells do not lead to anemia.

Authors

No affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

rus

PubMed ID

1295774

Citation

Doss, M O.. "[Enzyme Deficiency of Erythrocytes in Human Porphyria]." Gematologiia I Transfuziologiia, vol. 37, no. 11-12, 1992, pp. 10-5.
Doss MO. [Enzyme deficiency of erythrocytes in human porphyria]. Gematol Transfuziol. 1992;37(11-12):10-5.
Doss, M. O. (1992). [Enzyme deficiency of erythrocytes in human porphyria]. Gematologiia I Transfuziologiia, 37(11-12), pp. 10-5.
Doss MO. [Enzyme Deficiency of Erythrocytes in Human Porphyria]. Gematol Transfuziol. 1992;37(11-12):10-5. PubMed PMID: 1295774.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Enzyme deficiency of erythrocytes in human porphyria]. A1 - Doss,M O, PY - 1992/11/1/pubmed PY - 1992/11/1/medline PY - 1992/11/1/entrez SP - 10 EP - 5 JF - Gematologiia i transfuziologiia JO - Gematol Transfuziol VL - 37 IS - 11-12 N2 - Hereditary enzyme deficiency in porphyrias can be recognized in blood cells. In the red cell four enzymes of heme biosynthesis can be detected: porphobilinogen synthase (delta-aminolevulinic acid dehydrase), uroporphyrinogen synthase, cosynthase, and decarboxylase. A decrease of porphobilinogen synthase is observed in lead intoxication and in a new type of hereditary acute porphyria with nearly total enzyme deficiency in the homozygous state with a residual activity of 1-2% of controls. In another recessive condition, congenital erythropoietic porphyria, the deficient uroporphyrinogen cosynthase shows an activity between 1 and 20%. Acute intermittent porphyria is characterized by diminished uroporphyrinogen synthase which allows the recognition of gene carriers in red cells. In the genetic type of porphyria cutanea tarda triggered by alcohol, oral contraceptives, and liver damage the uroporphyrinogen decarboxylase is decreased to about 50%. In hepatoerythropoietic porphyria, a homozygous variant of porphyria cutanea tarda, decarboxylase activity was found below 10% of controls. With exception of congenital erythropoietic, hepatoerythropoietic porphyria, and lead poisoning enzyme deficiencies of porphyrin metabolism in red cells do not lead to anemia. SN - 0234-5730 UR - https://www.unboundmedicine.com/medline/citation/1295774/[Enzyme_deficiency_of_erythrocytes_in_human_porphyria]_ L2 - http://www.diseaseinfosearch.org/result/5879 DB - PRIME DP - Unbound Medicine ER -