Matches in DBpedia 2014 for { <http://dbpedia.org/resource/Erythropoietic_porphyria> ?p ?o. }
Showing items 1 to 41 of
41
with 100 items per page.
- 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 wikiPageRevisionID "606771200".
- Erythropoietic_porphyria hasPhotoCollection Erythropoietic_porphyria.
- Erythropoietic_porphyria icd "277.1".
- Erythropoietic_porphyria meshid "D017092".
- Erythropoietic_porphyria name "Erythropoietic porphyria".
- Erythropoietic_porphyria subject Category:Porphyrias.
- Erythropoietic_porphyria subject Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Erythropoietic_porphyria type Abstraction100002137.
- Erythropoietic_porphyria type Attribute100024264.
- Erythropoietic_porphyria type Condition113920835.
- Erythropoietic_porphyria type Disease114070360.
- Erythropoietic_porphyria type GeneticDisease114151139.
- Erythropoietic_porphyria type IllHealth114052046.
- Erythropoietic_porphyria type Illness114061805.
- Erythropoietic_porphyria type PathologicalState114051917.
- Erythropoietic_porphyria type PhysicalCondition114034177.
- Erythropoietic_porphyria type Porphyria114507651.
- Erythropoietic_porphyria type Porphyrias.
- Erythropoietic_porphyria type SkinConditionsResultingFromErrorsInMetabolism.
- Erythropoietic_porphyria type State100024720.
- Erythropoietic_porphyria type Disease.
- Erythropoietic_porphyria type AilmentCondition.
- Erythropoietic_porphyria type Situation.
- 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 label "Porfiria eritropoietica".
- Erythropoietic_porphyria label "Porfiria eritropoiética".
- Erythropoietic_porphyria sameAs Porfiria_eritropoietica.
- Erythropoietic_porphyria sameAs Porfiria_eritropoiética.
- Erythropoietic_porphyria sameAs m.04q29l_.
- Erythropoietic_porphyria sameAs Q3908491.
- Erythropoietic_porphyria sameAs Q3908491.
- Erythropoietic_porphyria sameAs Erythropoietic_porphyria.
- Erythropoietic_porphyria wasDerivedFrom Erythropoietic_porphyria?oldid=606771200.
- Erythropoietic_porphyria isPrimaryTopicOf Erythropoietic_porphyria.
- Erythropoietic_porphyria name "Erythropoietic porphyria".