Blister on the hand of a person with porphyria cutanea tarda
Specialty
Endocrinology
Porphyria cutanea tarda is the most common subtype of porphyria.[1] The disease is named because it is a porphyria that often presents with skin manifestations later in life. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.
Hepatoerythropoietic porphyria has been described as a homozygous form of porphyria cutanea tarda,[2] although it can also be caused if two different mutations occur at the same locus.
^Phillips, J. D.; Bergonia, H. A.; Reilly, C. A.; Franklin, M. R.; Kushner, J. P. (2007). "A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda". Proceedings of the National Academy of Sciences. 104 (12): 5079–84. Bibcode:2007PNAS..104.5079P. doi:10.1073/pnas.0700547104. JSTOR 25427147. PMC 1820519. PMID 17360334.
^"porphyria cutanea tarda" at Dorland's Medical Dictionary
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