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Erythropoietic protoporphyria [PDF]

Orphanet Journal of Rare Diseases, 2009
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
Puy Hervé, Lecha Mario, Deybach Jean-Charles   +2 more
doaj   +12 more sources

Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient [PDF]

Frontiers in Endocrinology
Xeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caused by the perturbation of heme.
Shu-hui Wu, Ting Xiao, Dan Zhao, Ying-hong Zeng, Ming-fang Zhu, Ming-fang Zhu   +5 more
doaj   +4 more sources

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management [PDF]

Liver International
AbstractThe erythropoietic protoporphyrias consist of three ultra‐rare genetic disorders of the erythroid heme biosynthesis, including erythropoietic protoporphyria (EPP1), X‐linked protoporphyria (XLEPP) and CLPX‐protoporphyria (EPP2), which all lead to the accumulation of protoporphyrin IX (PPIX) in erythrocytes.
Anna-Elisabeth Minder, Louisa G Kluijver, Jasmin Barman-Aksözen   +2 more
exaly   +5 more sources

Microcytosis in Erythropoietic Protoporphyria [PDF]

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   +3 more sources

Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report [PDF]

Reports
Background and Clinical Significance: Congenital erythropoietic porphyria (CEP), also known as Günther disease, is a rare autosomal recessive porphyria caused by a deficiency of uroporphyrinogen III synthase, leading to the accumulation of phototoxic ...
Supriya Peshin, Ehab Takrori, Kaneez S. Khan, Bilal Rahimuddin, Sanjaya K. Upadhyaya, Pintu K. Gami, Sakshi Singal   +6 more
doaj   +2 more sources

Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay

Metabolites, 2021
Erythropoietic porphyrias are caused by enzymatic dysfunctions in the heme biosynthetic pathway, resulting in porphyrins accumulation in red blood cells.
Antoine Poli, Caroline Schmitt, Boualem Moulouel   +2 more
exaly   +3 more sources

Validation of the sunlight exposure diary and the erythropoietic protoporphyria impact questionnaire (EPIQ) [PDF]

Orphanet Journal of Rare Diseases
Background Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders that can negatively affect one’s health-related quality of life (HRQoL) because of pain from phototoxic reactions and the avoidance of sun exposure that ...
Hetanshi Naik, Susan D. Mathias, Michelle P. Turner, Megan O’Grady, Chelsea Norregaard, Hilary H. Colwell, William Savage, Melanie Chin   +7 more
doaj   +2 more sources

Long-term iron supplementation in four patients with X-linked erythropoietic protoporphyria: associations with serum proteins and erythrocyte protoporphyrin levels—a single-centre retrospective study [PDF]

Frontiers in Molecular Biosciences
IntroductionX-linked erythropoietic protoporphyria (XLEPP) is an ultra-rare inborn error of the heme biosynthesis characterised by the accumulation of large amounts of protoporphyrin IX (PPIX) and zinc-protoporphyrin in the erythrocytes. PPIX absorbs the
Anna-Elisabeth Minder, Anna-Elisabeth Minder, Francesca Granata, Franziska van Breemen, Franziska van Breemen, Xiaoye Schneider-Yin, Xiaoye Schneider-Yin, Elisabeth I. Minder, Elisabeth I. Minder, Lanja Saleh, Lanja Saleh, Jasmin Barman-Aksözen, Jasmin Barman-Aksözen, Jasmin Barman-Aksözen, Jasmin Barman-Aksözen   +14 more
doaj   +2 more sources

Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect [PDF]

Frontiers in Pediatrics
Erythropoietic protoporphyria (EPP) is an autosomal recessive disorder of the heme biosynthesis pathway caused by pathogenic variants in FECH gene resulting in a decreased activity of ferrochelatase.
Patryk Lipiński, Agnieszka Lipniacka, Maja Klaudel-Dreszler, Lidia Ziółkowska, Grażyna Kostrzewa, Edyta Odnoczko, Robert Wasilewski, Rafał Płoski, Anna Tylki-Szymańska   +8 more
doaj   +2 more sources

Acquired erythropoietic protoporphyria secondary to myelodysplastic syndrome: from mythology to oncologyAcquired Erythropoietic Protoporphyria Secondary to Myelodysplastic Syndrome: From Mythology to Oncology [PDF]

Acta Dermato-Venereologica
is missing (Short communication)
Mirjana Urosevic-Maiwald, Jivko Kamarachev, Christoph Renner, Anna-Elisabeth Minder   +3 more
doaj   +2 more sources