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- Erythropoietic_porphyria abstract "Erythropoietic porphyria is a type of porphyria associated with erythropoietic cells. In erythropoietic porphyrias, the enzyme deficiency occurs in the red blood cells.There are three types:X-linked sideroblastic anemia or \"X-linked dominant erythropoietic protoporphyria\", associated with ALAS2 (aminolevulinic acid synthase), has also been described. 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. The mutation is caused by a frameshift mutation caused by one of two deletions in the ALAS2 exon 11, either c. 1706-1709 delAGTG or c. 1699-1700 delAT. This alters the 19th and 20th residues of the C-terminal domain thereby altering the 2° structure of the enzyme. The delAT mutation only occurred in one family studied whereas the delAGTG mutation occurred in several genetically distinct families. The delAGTG causes a loss of an a-helix which is replaced by a ß-sheet.Previously known mutations in the ALAS2 resulted in a loss-of-function mutation causing X-linked sideroblastic anemia. 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. All individuals studied presented symptoms without mutations in the FECH enzyme. The patterns of inheritance led the researchers to conclude the mutation must come from an enzyme on the X-chromosome with ALAS2 being the most likely candidate.X-linked dominant erythropoietic protoporphyria is distinct from EPP in that there is no overload of Fe2+ ions. Additionally, unlike the other condition the arises out of a mutation of the ALAS2 gene, there is no anemia. XDEPP is characterized by a buildup of Protoporphyrin IX caused by in increased level of function in the ALAS2 enzyme. Because there is a buildup of Proporphyrin IX with no malfunction of the FECH enzyme, all the available Fe2+ is used in the production of Heme causing the FECH enzyme to use Zn2+ in its place causing a buildup of Zinc Protoporphyrin IX.X-linked dominant erythropoietic protoporphyria is a relatively mild version of porphyria with the predominate symptom being extreme photo sensitivity causing severe itching and burning of the skin due to the buildup of Protoporphyrin IX. One possible treatment was discovered when treating an individual with supplemental Iron for a gastric ulcer. Levels of free Protoporphyrin decreased significantly as there was iron available for the FECH to produce Heme. Levels of Zn Protoporphyrin, however did not decrease.".
- Erythropoietic_porphyria icd9 "277.1".
- Erythropoietic_porphyria meshId "D017092".
- Erythropoietic_porphyria wikiPageExternalLink EPPLifeFight.
- Erythropoietic_porphyria wikiPageID "6701192".
- Erythropoietic_porphyria wikiPageLength "5010".
- Erythropoietic_porphyria wikiPageOutDegree "16".
- Erythropoietic_porphyria wikiPageRevisionID "678800387".
- Erythropoietic_porphyria wikiPageWikiLink ALAS2.
- Erythropoietic_porphyria wikiPageWikiLink Aminolevulinic_acid_synthase.
- Erythropoietic_porphyria wikiPageWikiLink Category:Porphyrias.
- Erythropoietic_porphyria wikiPageWikiLink Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Erythropoietic_porphyria wikiPageWikiLink Erythropoiesis.
- Erythropoietic_porphyria wikiPageWikiLink Erythropoietic_protoporphyria.
- Erythropoietic_porphyria wikiPageWikiLink Ferrochelatase.
- Erythropoietic_porphyria wikiPageWikiLink Gunther_disease.
- Erythropoietic_porphyria wikiPageWikiLink Hepatic_porphyria.
- Erythropoietic_porphyria wikiPageWikiLink Hepatoerythropoietic_porphyria.
- Erythropoietic_porphyria wikiPageWikiLink Online_Mendelian_Inheritance_in_Man.
- Erythropoietic_porphyria wikiPageWikiLink Porphyria.
- Erythropoietic_porphyria wikiPageWikiLink Red_blood_cell.
- Erythropoietic_porphyria wikiPageWikiLink Sideroblastic_anemia.
- Erythropoietic_porphyria wikiPageWikiLink Uroporphyrinogen_III_decarboxylase.
- Erythropoietic_porphyria wikiPageWikiLink Uroporphyrinogen_III_synthase.
- Erythropoietic_porphyria wikiPageWikiLinkText "Erythropoietic porphyria".
- Erythropoietic_porphyria wikiPageWikiLinkText "erythropoietic forms".
- Erythropoietic_porphyria wikiPageWikiLinkText "erythropoietic porphyria".
- Erythropoietic_porphyria icd "277.1".
- Erythropoietic_porphyria meshid "D017092".
- Erythropoietic_porphyria name "Erythropoietic porphyria".
- Erythropoietic_porphyria wikiPageUsesTemplate Template:Heme_metabolism_disorders.
- Erythropoietic_porphyria wikiPageUsesTemplate Template:Infobox_disease.
- Erythropoietic_porphyria wikiPageUsesTemplate Template:OMIM2.
- Erythropoietic_porphyria wikiPageUsesTemplate Template:Reflist.
- Erythropoietic_porphyria wikiPageUsesTemplate Template:Rp.
- Erythropoietic_porphyria subject Category:Porphyrias.
- Erythropoietic_porphyria subject Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Erythropoietic_porphyria hypernym Porphyria.
- Erythropoietic_porphyria type Disease.
- Erythropoietic_porphyria type Disorder.
- Erythropoietic_porphyria type Error.
- Erythropoietic_porphyria type Thing.
- Erythropoietic_porphyria type Q12136.
- Erythropoietic_porphyria comment "Erythropoietic porphyria is a type of porphyria associated with erythropoietic cells. In erythropoietic porphyrias, the enzyme deficiency occurs in the red blood cells.There are three types:X-linked sideroblastic anemia or \"X-linked dominant erythropoietic protoporphyria\", associated with ALAS2 (aminolevulinic acid synthase), has also been described.".
- Erythropoietic_porphyria label "Erythropoietic porphyria".
- Erythropoietic_porphyria sameAs Q3908491.
- Erythropoietic_porphyria sameAs Porfiria_eritropoietica.
- Erythropoietic_porphyria sameAs Porfiria_eritropoiética.
- Erythropoietic_porphyria sameAs m.04q29l_.
- Erythropoietic_porphyria sameAs Q3908491.
- Erythropoietic_porphyria wasDerivedFrom Erythropoietic_porphyria?oldid=678800387.
- Erythropoietic_porphyria isPrimaryTopicOf Erythropoietic_porphyria.
- Erythropoietic_porphyria name "Erythropoietic porphyria".