Heme Biosynthesis & its Disorders
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Porphyrias are metabolic disorders due to deficiencies of other enzymes of this pathway, and are associated with striking accumulations and excess excretion of heme pathway intermediates and their oxidized products. Symptoms and signs of the porphyrias are almost all due to effects on the nervous system or skin.
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heme synthesis starts in the mitochondria with the condensation of succiny COA with the camino acids glycine activated by pyridoxal phosphate.
disorders
1. cute intermitant Porphyria
2. congenital erythropoietic Porphyria
3. XLSA.
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