Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria [PDF]
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 +10 more
doaj +3 more sources
Inhibition of ABCG2 prevents phototoxicity in a mouse model of erythropoietic protoporphyria
Nature CommunicationsErythropoietic protoporphyria (EPP) is a genetic disease characterized by protoporphyrin IX-mediated painful phototoxicity. Currently, options for the management of EPP-associated phototoxicity are limited and no oral medication is available.
Junjie Zhu +8 more
doaj +2 more sources
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 +9 more
doaj +3 more sources
Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report
SAGE Open Medical Case Reports, 2018 Erythropoietic protoporphyria (EPP) is a genetically inherited disease that causes protoporphyrin accumulation in erythrocytes, skin, liver, bile, and stool. Clinically this manifests as photosensitivity with painful, edematous cutaneous porphyria.
James Kiberd, Laura Finlayson
doaj +3 more sources
Validation of the sunlight exposure diary and the erythropoietic protoporphyria impact questionnaire (EPIQ) [PDF]
Orphanet Journal of Rare DiseasesBackground 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 +7 more
doaj +2 more sources
Erythropoietic protoporphyria and early onset of cholestasis [PDF]
The Turkish Journal of Pediatrics, 2012 Erythropoietic protoporphyria (EPP) is an inherited defect of mitochondrial ferrochelatase. This defect results in accumulation of protoporphyrin in erythrocytes, plasma, liver, and skin, which causes severe photosensitivity.
Mani Jeh Khalili +7 more
doaj +1 more source
The GLYT1 inhibitor bitopertin mitigates erythroid PPIX production and liver disease in erythroid protoporphyria [PDF]
The Journal of Clinical InvestigationErythropoietic protoporphyria (EPP) is a genetic disorder typically resulting from decreased ferrochelatase (FECH) activity, the last enzyme in heme biosynthesis.
Sarah Ducamp +11 more
doaj +2 more sources
Laparoscopic Cholecystectomy in a Patient with Erythropoietic Protoporphyria
Journal of Surgical Case Reports, 2010 Erythropoietic protoporphyria (EPP) is an inherited defect in haem synthesis causing dangerous phototoxic reactions following exposure to wavelengths of light around 400nm. It can cause catastrophic post-operative complications following open surgery, in
Thomas Roe, Ian S Bailey
doaj +1 more source
Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review [PDF]
Orphanet Journal of Rare DiseasesBackground Erythropoietic protoporphyria is an inherited disorder characterized by mutations in the FECH gene, which encodes the enzyme ferrous chelatase.
Hongli Xiong +4 more
doaj +2 more sources
Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria [PDF]
Life, 2023 In animal models, melanocyte-stimulating hormones (MSHs) protect the liver from various injuries. Erythropoietic protoporphyria (EPP), a metabolic disorder, leads to the accumulation of protoporphyrin (PPIX).
Anna-Elisabeth Minder +4 more
doaj +3 more sources