Erythropoietic protoporphyria
Erythropoietic protoporphyria
... Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of ...
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Light induced protoporphyrin release from erythrocytes in erythropoietic protoporphyria
... protoporphyrin, protoporphyrin is bound to globin. During irradiation protoporphyrin moves from globin to the erythrocyte membrane and photohemolysis is initiated. Erythrocytes in patients with erythropoietic ...
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Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen stimulated lymphocytes from patients with erythropoietic protoporphyria
... in erythropoietic protoporphyria (EPP) can readily be identified in mitogen-stimulated lymphocytes since such cells from patients with EPP accumulate approximately twice as much protoporphyrin IX as cells ...
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Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria
... Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inborn errors of heme biosynthesis with the same phe- notype but resulting from autosomal recessive loss-of-function ...
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Heme regulated eIF2α kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and β thalassemia
... Heme-regulated eIF2α kinase (HRI) controls protein synthesis by phosphorylating the α-subunit of eukary- otic translational initiation factor 2 (eIF2α). In heme deficiency, HRI is essential for translational regulation ...
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Erythropoietic protoporphyria in the house mouse A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease
... ferrochelatase cDNA probe reveals no gross deletion of the ferrochelatase gene. This is the first spontaneous form of erythropoietic protoporphyria in the house mouse. Despite the presence in the mouse of ...
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Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria
... 2. Kappas A, Sassa S, Gallbraith RA, Nordmann Y. (1995) The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inher- ited disease. New York: McGraw-Hill; p 2103–59. 3. McGuire BM, ...
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Sequential Liver and Bone Marrow Transplantation for Treatment of Erythropoietic Protoporphyria
... Erythropoietic protoporphyria is a disorder of heme synthesis in which deficient ferrochelatase activity leads to excess production and biliary excretion of ...in erythropoietic ...
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Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease
... biosynthesis. Erythropoietic protoporphyria (EPP) is the most common inherited porphyria in children and is diagnosed in most individuals after the onset of cutaneous ...
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Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity I Different rates of disappearance of protoporphyrin from the erythrocytes, both in vivo and in vitro
... in erythropoietic protoporphyria, but not in lead ...in erythropoietic protoporphyria, but not in lead ...from erythropoietic tissue in erythropoietic proporphyria suggested an ...
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Erythropoietic protoporphyria: evidence for multiple sites of excess protoporphyrin formation
... spectrophotometrically, and its specific activity was determined by liquid scintillation spectrometry. Analysis of the kinetic and isotopic data indicated at least two sources of protoporphyrin, one localized in the ...
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Bovine congenital erythropoietic protoporphyria in a crossbred limousin heifer in Ireland
... of protoporphyria, a blood sample was obtained in an EDTA container and sent to the Cardiff Porphyria Service, Cardiff and Vale University Health Board, Wales, ...
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Advances in the management of erythropoietic protoporphyria – role of afamelanotide
... Abstract: Erythropoietic protoporphyria (EPP) and the phenotypically similar disease X-linked protoporphyria (XLPP) are inherited cutaneous porphyrias characterized clinically by acute non-blistering ...
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Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity II Different binding of erythrocyte protoporphyrin to hemoglobin
... measurements coupled with fractionations and biochemical syntheses showed that in erythropoietic protoporphyria the protoporphyrin is bound as the free base to hemoglobin molecules at sites other than the ...
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Comparative Study of Protoporphyrins in Erythropoietic Protoporphyria and Griseofulvin Induced Murine Protoporphyria: BINDING AFFINITIES, DISTRIBUTION, AND FLUORESCENCE SPECTRA IN VARIOUS BLOOD FRACTIONS
... congenital erythropoietic protoporphyria and of griseofulvin-induced murine hepatic protoporphyria were found to be associated with hemoglobin and stroma fractions in similar ...In ...
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Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria
... MFRN1 Expression and Level of FECH activity in Cultured Lymphoblasts MFRN1 expression was quantatively examined in cultured EBV-transformed lymphoblasts from the seven patients with vari[r] ...
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Erythropoietic Protoporphyria: Lipid Peroxidation and Red Cell Membrane Damage Associated with Photohemolysis
... In the present report, lipid peroxidation during in vitro irradiation of EPP red cells with long ultraviolet light was demonstrated by: a the formation of 2-thiobarbituric acid reactants[r] ...
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Erythropoietic protoporphyria Photoactivation of the complement system
... The loss of total hemolytic activity can be directly correlated with the levels of protoporphyrin PP and similar changes can be obtained in normal serum upon addition of PP followed by u[r] ...
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Activation of the complement system in patients with porphyrias after irradiation in vivo
... with erythropoietic protoporphyria and one patient with porphyria cutanea tarda resulted in an in vivo activation of the complement system, as assessed by diminution of the hemolytic titers of the third ...
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Neonatal hemolytic anemia does not always indicate thalassemia: a case report
... Congenital erythropoietic porphyria is an extremely rare inborn defect affecting the metabolism of porphyrin heme synthesis. Only several hundred cases have been reported worldwide [7, 8], and our knowledge, this ...
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