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Showing posts with the label congenital erythropoietic porphyria

Potential Porphyria Treatment Include: Enzyme Replacement Therapy, Gene Replacement Therapy, mRNA Therapeutics, And Hepatocyte Transplantation

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  Porphyria is a group of disorders caused by an over-accumulation of porphyrin which helps haemoglobin, the protein that carries oxygen in the blood. The specific names of the eight types of porphyrias are: acute intermittent porphyria, congenital erythropoietic porphyria, delta-aminolevulinate-dehydratase deficiency porphyria, erythropoietic protoporphyria, hereditary coproporphyria, hepatoerythropoitic porphyria, porphyria cutanea tarda, and variegate porphyria. In Germany, analyses of clinical and laboratory features of patients with acute porphyrias are only available for hereditary coproporphyria. The condition can't be cured. However, certain lifestyle changes may aid in avoiding symptoms of porphyria. Porphyria Treatment involves intravenous (IV) heme or glucose infusions (adding heme or glucose directly into a vein). The most common inborn errors of metabolism are evident in acute intermittent porphyria (AIP), a defect of heme synthesis enzymes. The conditi...