In series 14 episode 26 of " Casualty " entitled " Seize the Night ", one of the patients admitted to the department was a young girl who had erythropoietic protoporphyria.
22.
Nucleated red blood cells in mammals consist of two forms : normoblasts, which are normal erythropoietic precursors to mature red blood cells, and megaloblasts, which are abnormally large precursors that occur in megaloblastic anemias.
23.
X-linked dominant erythropoietic protoporphyria ( XDEPP ) is caused by a gain of function mutation in the ALAS2 ( 5-aminolevulinate synthase ) gene; the very first enzyme in the Heme biosynthetic pathway.
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Defects in various enzymes in synthesis of heme can lead to group of disorder called porphyrias, these include acute intermittent porphyria, congenital erythropoetic porphyria, porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria, erythropoietic protoporphyria.
25.
These trials were to determine if afamelanotide " could reduce the number and severity of phototoxic reactions in patients with erythropoietic protoporphyria " and " increase the duration of exposure to sunlight that can be tolerated by EPP patients ".
26.
Erythropoietic protoporphyria ( EPP ) has similar symptoms as X-linked dominant erythropoietic protoporphyria but the mutation occurs as a loss-of-function in the FECH ( ferrochelatase ) enzyme; the very last enzyme in the pathway.
27.
Erythropoietic protoporphyria ( EPP ) has similar symptoms as X-linked dominant erythropoietic protoporphyria but the mutation occurs as a loss-of-function in the FECH ( ferrochelatase ) enzyme; the very last enzyme in the pathway.
28.
Individuals who are homozygous for a specific mutation ( K404E ) or compound heterozygous with a null allele in " CPOX " have a more severe erythropoietic porphyria, harderoporphyria, characterized by neonatal jaundice, hyperbilirubinemia, hepatosplenomegaly and skin lesions upon exposure to ultraviolet light.
29.
No one knows how many people have Rob's disease, erythropoietic protoporphyria or EPP . But Dr . Micheline Mathews-Roth, an associate professor of medicine at Harvard Medical School and an EPP expert, estimates that fewer than 20, 000 Americans have the disorder.
30.
No one knows how many people worldwide have Rob's disease, erythropoietic protoporphyria or EPP . But Dr . Micheline Mathews-Roth, an associate professor of medicine at Harvard Medical School and an EPP expert, estimates that fewer than 20, 000 Americans have the disorder.
