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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. This disorder is characterized by painful skin photosensitivity, due to excessive protoporphyrin IX (PPIX) production in erythrocytes.
Francesca Granata +2 more
exaly +5 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.
Caroline Schmitt +2 more
exaly +3 more sources
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 ...
Francesca Granata +2 more
exaly +3 more sources
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Erythropoietic protoporphyria.
British Journal of Dermatology, 1976The terminal stages of erythropoietic protoporphyria are recorded. The observations are related to the site of the fundamental lesion and the nature of the biochemical defect. The possibly ominous prognosis in this usually mild condition is emphasized. Apart from congenital porphyria, the porphyrias do not usually confer severe cutaneous lesions. These
D M, Macdonald, D C, Nicholson
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Pseudoainhum and erythropoietic protoporphyria
British Journal of Dermatology, 1988We report the development of pseudoainhum in a patient with erythropoietic protoporphyria, the first report, to our knowledge, of these two unusual conditions occurring together. An excellent cosmetic and functional result was achieved with a Z plasty.
A P, Christopher +2 more
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Erythropoietic protoporphyria in a child
European Journal of Pediatrics, 1989Erythropoietic protoporphyria (EPP), a recently described form of porphyria, often remains unrecognized. We report the case of a 7-year-old girl admitted for investigation of photosensitivity since the age of 18 months without any significant objective cutaneous lesions.
M, Piotte +3 more
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British Journal of Dermatology, 1994
Erythropoietic protoporphyria (EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the haem biosynthetic pathway, which catalyses the insertion of iron into protoporphyrin to form haem.
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Erythropoietic protoporphyria (EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the haem biosynthetic pathway, which catalyses the insertion of iron into protoporphyrin to form haem.
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Erythropoietic Protoporphyria and Photohemolysis
JAMA, 1964Erythropoietic protoporphyria is a relatively rare metabolic anomaly occurring in childhood and characterized by various types of cutaneous lesions on light-exposed areas. The lesions are a photosensitive response to an excess of protoporphyrin. Diagnosis can be established by demonstrating a quantitative increase in erythrocyte protoporphyrin levels ...
L C, HARBER, A S, FLEISCHER, R L, BAER
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Journal of Inherited Metabolic Disease, 1997
AbstractPartial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate pattern of inheritance and may be complicated by fulminating liver disease. The recent development of
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AbstractPartial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate pattern of inheritance and may be complicated by fulminating liver disease. The recent development of
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Neuropathy in erythropoietic protoporphyrias
Neurology, 1998Peripheral neuropathy (PN) has rarely been described as a complication of erythropoietic protoporphyria (EPP). We describe three episodes of PN and the electrophysiologic findings in two patients with EPP. PN is seen in patients with EPP and hepatic failure and raised free erythrocyte protoporphyrin or serum protoporphyrin levels and is identical to ...
S A, Muley +4 more
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