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Showing 1 to 20 of 23 for “"Porphyria"”.
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Variegate porphyria : molecular aspects of variegate porphyria in South Africa and their biochemical and clinical consequences
Variegate porphyria (VP) is the clinical disorder associated with a deficiency of the haemsynthesising enzyme protoporphyrinogen oxidase (PPO). VP is one of the commonest monogenic inherited disorders in South Africa. The clinical effects include photocutaneous sensitivity and the development of …
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Porphyrin metabolism in congenital erythropoietic porphyria
… of patients with congenital erythropoietic porphyria (CEP) by high-performance liquid chromatography and characterized by liquid secondary ion mass spectrometry and chemical properties. The physico-chemical properties of these compounds have been studied. The hydroxy- and peroxyacetic acid- …
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Therapy of porphyria with oral activated charcoal
The porphyrias are a group of disorders of the haem biosynthetic pathway. Each is ascribed to a unique deficiency of an enzyme of this pathway. Figure 1.1 shows this pathway and the position of the affected enzyme in each form of porphyria. PORPHYRINOGENS AND PORPHYRINS The porphyrinogens are …
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Molecular characterisation of acute intermittent porphyria in South Africa
Acute intermittent porphyria belongs to a group of inherited disorders of haem metabolism. The object of this project is to characterise the mutations in the hydroxymethylbilane synthase (HMBS) gene in a cohort of South African patients. The elucidation of these mutations will facilitate an …
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Erythropoietin for the Treatment of Porphyria Cutanea Tarda in End Stage Renal Disease
Porphyria Cutanea Tarda (PCT) is an iron-related disease that results from acquired inhibition of hepatic uroporphyrinogen decarboxylase (UROD), the fifth enzyme in the heme biosynthetic pathway. Clinically, PCT presents with chronic photosensitive vesiculo-bullous skin lesions that are painful and …
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DIETARY INTERVENTIONS TARGETING GLUCOSE METABOLISM AND HYPERINSULINEMIA: A NEW TRANSLATIONAL PERSPECTIVE FOR THE MANAGEMENT OF ACUTE INTERMITTENT PORPHYRIA
Acute Intermittent Porphyria (AIP) represents the most severe form of hepatic porphyrias, an inherited disorder caused by genetic mutations in the hydroxymethylbilane synthase (HMBS) gene, encoding the porphobilinogen deaminase (PBGD) enzyme and reducing hepatic heme availability. In stressful …
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A study of aminolaevulinic acid synthase
… and thus implicated in the acute attack of porphyria. Given the large number of patients who suffer from an acute form porphyria in South Africa the regulation of the human hepatic form of the enzyme is of considerable interest.
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Biochemical studies in drug-induced porphyrias in the rat : with a review of the literature on experimental porphyria and an investigation of thirteen human cases
… .many fascinating problems. The drug-induced porphyrias in animals provide a model whereby these problems may be investigated by techniques which cannot be applied to man. The consumption of alcoholic beverages or other chemical substances has been associated with the development of …
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Expression, purification and characterisation of protoporphyrinogen oxidases from diverse species
… human. A defect in human PPO causes variegate porphyria, an autosomal dominant disorder characterised by skin photosensitivity and propensity towards acute neurovisceral crises. At the beginning of this project little information was available on the kinetic and biophysical properties of …
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Characterisation of the flavin adenine dinucleotide binding region in Myxococcus xanthus protoporphyrinogen oxidase
… Partial defects in PPOX result in variegate porphyria, an autosomal dominant disorder. PPOX catalyzes the six electron oxidation of protoporphyrinogen IX to protoporphyrin IX, in the presence of flavin adenine dinucleotide (FAD) and oxygen. FAD is a cofactor, functioning as an intermediate …
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Studies on human protoporphyrinogen oxidase
… oxidase mutations responsible for variegate porphyria, the role of the arginine-59 residue, and the glycines in the conserved flavin binding site, in catalysis and/or cofactor binding. Wild type recombinant human protoporphyrinogen oxidase and a selection of both naturally occurring and …
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Naproxen-induzierte Pseudoporphyrie bei Kindern mit Erkrankungen des rheumatischen Formenkreises
… die klinisch und histologisch nicht von einer Porphyria cutanea tarda zu unterscheiden sind. Es zeigen sich Bläschen, Blasen und eine erhöhte Verletzlichkeit der Haut in sonnenexponierten Arealen. Im Gegensatz zur Porphyria cutanea tarda lassen sich keine pathologischen …
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The urinary excretion of mercapturic acids in free-living adult males
… method of Seutter-Berlage et al (Chemical Porphyria in Man. Elsevier/North-Holland Biomedical Press, N.Y. 1979:233-236) was used for the quantitation of urinary mercapturic acid. The mean excretion of mercapturic acid was 0.27 mmole mercapturate (-SH)/24 hr and 18.1 umole -SH/mmole …
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Structural and Synthetic Studies of Bioactive Natural Products
… alkaloids were isolated from the marine sponge Porphyria flintae. The structures of these known compounds were all elucidated by comparison to literature data. Two 6-amino-glycoglycerolipids had been previously isolated from a marine algae species and shown to inhibit the activity of the enzyme …
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