Journal ArticleDOI
Intermittent Acute Porphyria — Demonstration of a Genetic Defect in Porphobilinogen Metabolism
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In a family with intermittent acute porphyria five affected members were found to have decreased erythrocyte uroporphyrinogen I (URO)-synthetase activity, when compared to unaffected members.Abstract:
In a family with intermittent acute porphyria (IAP) five affected members were found to have decreased erythrocyte uroporphyrinogen I (URO)-synthetase activity, when compared to unaffected...read more
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5-Aminolevulinic acid-based photodynamic therapy. Clinical research and future challenges.
Qian Peng,Trond Warloe,Kristian Berg,Johan Emelian Moan,Magne Kongshaug,Karl Erik Giercksky,Jahn M. Nesland +6 more
TL;DR: Studies have shown that a higher accumulation of ALA‐derived PpIX in rapidly proliferating cells may provide a biologic rationale for clinical use of ALa‐based PDT and diagnosis, however, no review updating the clinical data has appeared so far.
Journal ArticleDOI
An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.
TL;DR: It is proposed that porphyria cutanea tarda results from the combination of an inherited defect in uroporphyrinogen decarboxylase and an acquired factor, usually siderosis associated with alcoholic liver disease.
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Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria
Raija L.P. Lindberg,Catherine Porcher,Bernard Grandchamp,Birgit Ledermann,Kurt Bürki,Sebastian Brandner,Adriano Aguzzi,Urs A. Meyer +7 more
TL;DR: To study the pathogenesis of the neurologic symptoms of AIP, Pbgd-deficient mice are generated by gene targeting and reveal decreased motor function and-histo-pathological findings include axonal neuropathy and neurologic muscle atrophy.
Journal ArticleDOI
The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts.
TL;DR: Fecal protoporphyrin is increased in patients with variegate porphyria, even during clinical remission, suggesting an enzymatic defect in the terminal portion of the heme biosynthetic path.
Journal ArticleDOI
Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria
Hervé Puy,Jean-Charles Deybach,Jérôme Lamoril,A. M. Robreau,V. Da Silva,Laurent Gouya,Bernard Grandchamp,Yves Nordmann +7 more
TL;DR: The evaluation of the efficiency of the standard PBG deaminase enzymatic screening method for gene-carrier detection indicated 95% of concordancy with the molecular-based diagnosis.
References
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Journal Article
Protein Measurement with the Folin Phenol Reagent
TL;DR: Procedures are described for measuring protein in solution or after precipitation with acids or other agents, and for the determination of as little as 0.2 gamma of protein.
Journal ArticleDOI
THE OCCURRENCE AND DETERMINATION OF δ-AMINOLEVULINIC ACID AND PORPHOBILINOGEN IN URINE
D. Mauzerall,S. Granick +1 more
TL;DR: A sensitive calorimetric method for the quantitative determination of SAL is described and 6AL has been found in urine of a patient with acute porphyria and also in normal urine.
Journal ArticleDOI
The Induction in Vitro of the Synthesis of δ-Aminolevulinic Acid Synthetase in Chemical Porphyria: A Response to Certain Drugs, Sex Hormones, and Foreign Chemicals
TL;DR: Evidence is presented that the control of ALA synthetase in the liver is by feedback repression in which heme may be the corepressor and no feedback inhibition was found.
Journal ArticleDOI
δ-Aminolevulinic Acid Synthetase II. INDUCTION IN RAT LIVER
TL;DR: The administration of actinomycin D or 5-fluorouracil to rats previously treated with allylisopropylacetamide results in a rapid decline of the hepatic levels of induced δ-aminolevulinic acid synthetase, which suggests that the turnover of the messenger RNA for hepatic δ, £2,000-3,000 acids is considerably more rapid than the bulk of rat liver messenger RNA.
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