Results 21 to 30 of about 601 (148)

Management of erythropoietic protoporphyria with cholestatic liver disease: A case report

Molecular Genetics and Metabolism Reports, 2023
Erythropoietic protoporphyria (EPP) is a rare metabolic disease of the heme biosynthetic pathway where an enzymatic dysfunction results in protoporphyrin IX (PPIX) accumulation in erythroid cells. The porphyrins are photo-reactive and are responsible for
Antoine Poli, Camilla Frieri, Thibaud Lefebvre, Juliette Delforge, Arienne Mirmiran, Neila Talbi, Boualem Moulouel, Marion Six, Valérie Paradis, Nathalie Parquet, Hervé Puy, Caroline Schmitt, Elisabeth Aslangul, Flore Sicre de Fontbrune, Laurent Gouya   +14 more
doaj   +1 more source

Microcytosis in Erythropoietic Protoporphyria

Frontiers in Physiology, 2022
Partial deficiency of the last enzyme of the heme biosynthetic pathway, namely, ferrochelatase (FECH), is responsible for erythropoietic protoporphyria (EPP) in humans.
Giovanna Graziadei, Lorena Duca, Francesca Granata, Giacomo De Luca, Anna De Giovanni, Valentina Brancaleoni, Isabella Nava, Elena Di Pierro   +7 more
doaj   +1 more source

Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria

Molecular Genetics and Metabolism Reports, 2019
Erythropoietic protoporphyria (EPP) is an autosomal recessive deficiency in heme biosynthesis due to pathogenic variants in the ferrochelatase gene (FECH). Patients present with lifelong photosensitivity and potential liver disease.
Michele C. Kieke, Jacob Klemm, Arthur Rech Tondin, Victor Alencar, Nathan Johnson, Ashley M. Driver, Thomas Lentz, Gregory J. Fischer, Diane A. Caporale, Luke J. Drury   +9 more
doaj   +1 more source

Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria [PDF]

Clinical and Molecular Hepatology, 2012
Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway that is characterized by accumulation of protoporphyrin in the blood, erythrocytes, and tissues, and cutaneous manifestations of photosensitivity, all resulting ...
Pyoung-Jae Park, Shin Hwang, Young-Il Choi, Young-Dong Yu, Gil-Chun Park, Sung-Won Jung, Sam-Youl Yoon, Gi-Won Song, Tae-Yong Ha, Sung-Gyu Lee   +9 more
doaj   +1 more source

Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria

Diagnostics, 2022
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inherited disorders resulting from defects in two different enzymes of the heme biosynthetic pathway, i.e., ferrochelatase (FECH) and delta-aminolevulinic acid synthase-2 (ALAS2 ...
Elena Di Pierro, Francesca Granata, Michele De Canio, Mariateresa Rossi, Andrea Ricci, Matteo Marcacci, Giacomo De Luca, Luisa Sarno, Luca Barbieri, Paolo Ventura, Giovanna Graziadei   +10 more
doaj   +1 more source

Beyond pigmentation: signs of liver protection during afamelanotide treatment in Swiss patients with erythropoietic protoporphyria, an observational study

Therapeutic Advances in Rare Disease, 2021
Erythropoietic protoporphyria (EPP) is an ultra-rare inherited disorder with overproduction of protoporphyrin in maturating erythroblasts. This excess protoporphyrin leads to incapacitating phototoxic burns in sunlight exposed skin.
Anna-Elisabeth Minder, Jasmin Barman-Aksoezen, Mathias Schmid, Elisabeth I. Minder, Henryk Zulewski, Christoph E. Minder, Xiaoye Schneider-Yin   +6 more
doaj   +1 more source

Mechanism of in Vitro Photohemolysis in Erythropoietic Protoporphyria (EPP)*

Journal of Investigative Dermatology, 1966
Four photosensitive patients with EPP showed markedly elevated RBC protoporphyrin levels. In vitro exposure of. a monolayer of their RBC in buffered saline to 3 x 10(6) ergs/mm2 of 4000 Å irradiation (= 45 minutes under a bank of fluorescent black lights) produced complete hemolysis within 24 hours; normal RBC showed negligible hemolysis after similar ...
Fleischer, Alan S, Harber, Leonard C, Cook, John S, Baer, Rudolf L   +3 more
openaire   +2 more sources

Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients

Frontiers in Physiology, 2022
Background: The heme biosynthesis (HB) involves eight subsequent enzymatic steps. Erythropoietic protoporphyria (EPP) is caused by loss-of-function mutations in the ferrochelatase (FECH) gene, which in the last HB step inserts ferrous iron into ...
Francesca Granata, Valentina Brancaleoni, Jasmin Barman-Aksözen, Margherita Scopetti, Giacomo De Luca, Silvia Fustinoni, Irene Motta, Irene Motta, Elena Di Pierro, Giovanna Graziadei   +9 more
doaj   +1 more source

Surgical treatment for breast cancer in a patient with erythropoietic protoporphyria and photosensitivity: a case report

Surgical Case Reports, 2021
Background Erythropoietic protoporphyria (EPP) is a rare disorder of heme synthesis. Patients with EPP mainly show symptoms of photosensitivity, but approximately 20% of EPPs are associated with the liver-related complications. We report a case of breast
Akiko Shimazaki, Takuma Hashimoto, Masaya Kai, Tetsuzo Nakayama, Mai Yamada, Karen Zaguirre, Kentaro Tokuda, Makoto Kubo, Ken Yamaura, Masafumi Nakamura   +9 more
doaj   +1 more source

The diagnosis and management of porphyria cutanea tarda (PCT)

South African Family Practice, 2009
The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
doaj   +1 more source