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Porphyrin Disorders

Porphyria, Porphyrinopathy: enzyme deficiencies in the production of heme, resulting in buildup of toxic porphyrins in tissues

  • Haemopyrrollactamurie (HPU) - stress-induced double deficiency of pyridoxal-5-phosfate and zinc. (Usualal manganese is also deficient. HPU is a group of defects in the metabolism of heme caused by abnormalities in enzymes that make it.

Polymorphisms

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Last updated 19 December 2005