Uroporphyrinogènes : Questions médicales fréquentes
Questions fréquentes et termes MeSH associés
Diagnostic 5
Comment diagnostiquer une porphyrie ?
Quels tests sont utilisés pour mesurer les uroporphyrinogènes ?
Quels symptômes indiquent une porphyrie ?
Les tests génétiques sont-ils nécessaires ?
Quelle est l'importance de l'historique médical ?
Symptômes 5
Quels sont les symptômes courants des uroporphyrinogènes ?
Comment se manifeste la photosensibilité ?
Y a-t-il des symptômes neurologiques associés ?
Les symptômes varient-ils selon le type de porphyrie ?
Les symptômes peuvent-ils être confondus avec d'autres maladies ?
Prévention 5
Comment prévenir les crises de porphyrie ?
L'éducation des patients est-elle essentielle ?
Les changements de mode de vie sont-ils recommandés ?
Les femmes enceintes doivent-elles être surveillées ?
Les vaccinations sont-elles importantes ?
Traitements 5
Quels traitements sont disponibles pour la porphyrie ?
Les transfusions sanguines sont-elles nécessaires ?
Comment la photothérapie aide-t-elle ?
Y a-t-il des médicaments spécifiques pour la porphyrie ?
Le suivi médical est-il important ?
Complications 5
Quelles sont les complications possibles des porphyries ?
Les lésions cutanées sont-elles réversibles ?
Comment les troubles hépatiques se manifestent-ils ?
Les complications neurologiques sont-elles graves ?
Comment gérer les complications ?
Facteurs de risque 5
Quels sont les facteurs de risque pour la porphyrie ?
L'hérédité joue-t-elle un rôle ?
Les femmes sont-elles plus à risque ?
L'alimentation influence-t-elle le risque ?
Les infections peuvent-elles déclencher des crises ?
Contenu validé par Dr Olivier Menir
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 13/04/2026
Contenu vérifié selon les dernières recommandations médicales
Auteurs principaux
Yedidyah Weiss
2 publications dans cette catégorie
- Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: yedidyah.weiss@mssm.edu.
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Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Molecular genetics and metabolism 2018-11-28
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Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Molecular genetics and metabolism 2018-08-31
Brenden Chen
2 publications dans cette catégorie
- Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, TX, USA. Electronic address: brenden.chen@mssm.edu.
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Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Molecular genetics and metabolism 2018-11-28
-
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Molecular genetics and metabolism 2018-08-31
Makiko Yasuda
2 publications dans cette catégorie
- Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, TX, USA. Electronic address: makiko.yasuda@mssm.edu.
-
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Molecular genetics and metabolism 2018-11-28
-
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Molecular genetics and metabolism 2018-08-31
Irina Nazarenko
2 publications dans cette catégorie
- Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, TX, USA. Electronic address: irina.nazarenko@mssm.edu.
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Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Molecular genetics and metabolism 2018-11-28
-
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Molecular genetics and metabolism 2018-08-31
Robert J Desnick
2 publications dans cette catégorie
- Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: robert.desnick@mssm.edu.
-
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Molecular genetics and metabolism 2018-11-28
-
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Molecular genetics and metabolism 2018-08-31
Karl E Anderson
1 publication dans cette catégorie
- Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, TX, USA. Electronic address: kanderso@utmb.edu.
-
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Molecular genetics and metabolism 2018-11-28
Manisha Balwani
1 publication dans cette catégorie
- Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: manisha.balwani@mssm.edu.
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Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Molecular genetics and metabolism 2018-08-31
Sources (7 au total)
Crystal structures of hydroxymethylbilane synthase complexed with a substrate analog: a single substrate-binding site for four consecutive condensation steps.
Hydroxymethylbilane synthase (HMBS), which is involved in the heme biosynthesis pathway, has a dipyrromethane cofactor and combines four porphobilinogen (PBG) molecules to form a linear tetrapyrrole, ...
Improved biosynthesis of heme in Bacillus subtilis through metabolic engineering assisted fed-batch fermentation.
Heme is an iron/porphyrin complex compound, widely used in the health care, food, and pharmaceutical industries. It is more advantageous and attractive to develop microbial cell factories to produce h... The heme biosynthetic pathway was engineered as four modules, the endogenous C5 pathway, the heterologous C4 pathway, the uroporphyrinogen (urogen) III synthesis pathway, and the downstream synthesis ... Strengthening endogenous C5 pathway, urogen III synthesis pathway and downstream synthesis pathway promoted the biosynthesis of heme in B. subtilis. The engineered B. subtilis strain has great potenti...
Identification of Photosynthesis Characteristics and Chlorophyll Metabolism in Leaves of
In autumn and spring, citrus leaves with a...
Expression of peptide transporter 1 has a positive correlation in protoporphyrin IX accumulation induced by 5-aminolevulinic acid with photodynamic detection of non-small cell lung cancer and metastatic brain tumor specimens originating from non-small cell lung cancer.
Recently, 5-aminolevulinic acid (5-ALA)-induced protoporphyrin IX fluorescence was reported to be a useful tool during total surgical resection of high-grade gliomas. However, the labeling efficacy of... Western blotting and quantitative real-time polymerase chain reaction (qRT-PCR) was employed to evaluate the protein and mRNA levels of five transporters and enzymes involved in the porphyrin biosynth... A significant correlation between PEPT1 expression and protoporphyrin IX accumulation in vitro was identified by western blotting (P = 0.003) and qRT-PCR (P = 0.04). Immunohistochemistry results indic... Expression of PEPT1 was found to be positively correlated with 5-ALA-induced protoporphyrin IX accumulation detected by photodynamic reaction in metastatic brain tumors originating from NSCLC....
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Porphyria Cutanea Tarda (PCT) is a cutaneous porphyria that results from the hepatic inhibition of the heme biosynthetic enzyme uroporphyrinogen decarboxylase (UROD), and can occur either in the absen...
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
The erythropoietic porphyrias are inborn errors of heme biosynthesis with prominent cutaneous manifestations. They include autosomal recessive Congenital Erythropoietic Porphyria (CEP) due to loss-of-...