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

• "In exon 4 of the gene encoding the heme biosynthetic pathway enzyme, coproporphyrinogen oxidase (CPOX4), which significantly modifies the effect of mercury exposure on urinary porphyrin excretion in humans" ... "Exploratory findings suggest that the CPOX4 polymorphism may affect susceptibility for specific neurobehavioral functions associated with mercury exposure in human subjects." From The association between a genetic polymorphism of coproporphyrinogen oxidase, dental mercury exposure and neurobehavioral response in humans. by Echeverria D, Woods JS, Heyer NJ, Rholman D, Farin FM, Li T, and Garabedian CE in Neurotoxicol Teratol. 2005 Dec 8.

For more information

• Porphyrin Protocol
• The American Porphyria Foundation
• HPU- Website

See also my pages

• P450 Enzymes
• Detoxification