Porphyrias
Mostrando 1-12 de 17 artigos, teses e dissertações.
-
1. The role of ClpX in erythropoietic protoporphyria
ABSTRACT Hemoglobin is an essential biological component of human physiology and its production in red blood cells relies upon proper biosynthesis of heme and globin protein. Disruption in the synthesis of these precursors accounts for a number of human blood disorders found in patients. Mutations in genes encoding heme biosynthesis enzymes are associated wi
Hematol., Transfus. Cell Ther.. Publicado em: 2018-06
-
2. Liver Damage Induced by Succinylacetone: A Shared Redox Imbalance Mechanism between Tyrosinemia and Hepatic Porphyrias
To show liver failure mediated by 5-aminolevulinic acid (ALA), a heme precursor accumulated in inborn and acquired porphyrias, rats were treated with succinylacetone methyl ester (SAME). Treated rats underwent the expected ALA accumulation in plasma, liver and urine as a result from inhibition of ALA dehydratase (ALAD) activity. The enzyme activity decreased
J. Braz. Chem. Soc.. Publicado em: 2017-07
-
3. Espectroscopia de fluorescencia como metodo para monitoramento de porfiria induzida por dieta de glicose / Fluorescence spectroscopy as a method for diagnosis of porphyria induced by glucose diet of 5%
A pesquisa de fluorescência nativa em tecidos biológicos tem despertado grande interesse na Biologia e Medicina. A fluorescência óptica tornou-se instrumento indispensável aos diagnósticos, sendo um método eficiente e não invasivo. Neste trabalho investigamos a presença de fluorescência nativa em áreas corpóreas de ratos Wistar, subdivididos em d
Publicado em: 2009
-
4. Bioquímica e ação citotóxica de alfa-aminocetonas endógenas
alpha-Aminoketones are expected to undergo enolization and subsequent aerobic oxidation yielding oxyradicals and highly toxic a-oxoaldehydes. Our interest has been focused on two endogenous a-aminoketones: 5-aminolevulinic acid (ALA) and aminoacetone (AA), accumulated in porphyrias and diabetes mellitus, respectively, and recently implicated as contributing
Química Nova. Publicado em: 2005-06
-
5. The porphyrias: a review.
-
6. Postulated deficiency of hepatic heme and repair by hematin infusions in the "inducible" hepatic porphyrias.
There is compelling, indirect evidence of hepatic heme deficiency due primarily to the respective genetic errors of the three inducible hepatic porphyrias, acute intermittent porphyria, porphyria variegata, and hereditary coproporphyria. The induction is enhanced by exogenous inducers such as barbiturate, estrogens and other "porphyrogenic" chemicals and fac
-
7. Motor neuropathy in porphobilinogen deaminase–deficient mice imitates the peripheral neuropathy of human acute porphyria
Acute porphyrias are inherited disorders caused by partial deficiency of specific heme biosynthesis enzymes. Clinically, porphyrias are manifested by a neuropsychiatric syndrome that includes peripheral neuropathy. Although much is known about the porphyrias’ enzyme defects and their biochemical consequences, the cause of the neurological manifestations re
American Society for Clinical Investigation.
-
8. Differential effects of metalloporphyrins on messenger RNA levels of delta-aminolevulinate synthase and heme oxygenase. Studies in cultured chick embryo liver cells.
The acute porphyrias in relapse are commonly treated with intravenous heme infusion to decrease the activity of delta-aminolevulinic acid synthase, normally the rate-controlling enzyme in heme biosynthesis. The biochemical effects of heme treatment are short-lived, probably due in part to heme-mediated induction of heme oxygenase, the rate-controlling enzyme
-
9. Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphyria
Hereditary coproporphyria (HCP) is the least common of the autosomal dominant acute hepatic porphyrias. It results from mutations in the CPO gene that encodes the mitochondrial enzyme, coproporphyrinogen oxidase. A few patients have also been reported who are homoallellic or heteroallelic for CPO mutations and are clinically distinct from those with HCP. In
The American Society of Human Genetics.
-
10. Activation of the complement system in patients with porphyrias after irradiation in vivo.
Irradiation of the forearms of two patients 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 component of complement by 23-57%, and of the fifth component of complement (C5) by 19-47%. Such treatment also g
-
11. Decreased Red Cell Uroporphyrinogen I Synthetase Activity in Intermittent Acute Porphyria
Intermittent acute porphyria has recently been distinguished biochemically from other genetic hepatic porphyrias by the observation of diminished hepatic uroporphyrinogen I synthetase activity and increased δ-aminolevulinic acid synthetase activity. Since deficient uroporphyrinogen I synthetase may be reflected in nonhepatic tissues, we have assayed this en
-
12. Activation of factor XII-dependent pathways in human plasma by hematin and protoporphyrin.
Intravenous administration of hematin is effective in the treatment of acute exacerbations of the inducible porphyrias. In the course of such treatment, coagulopathies have occurred that are characterized by prolongation of prothrombin time, partial thromboplastin time, and formation of fibrin split products. In experiments in vitro with normal human plasma,