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Congenital erythropoietic porphyria (CEP) is one of the rare forms of an intriguing group of metabolic disorders known as porphyria, caused by an autosomal recessive inherited deficiency of the uroporphyrin III cosynthase enzyme.
Adult-onset Gunther's disease (congenital erythropoietic porphyria) in a 37-year-old man: a case report
The calibrators included coproporphyrin III dihydrochloride, uroporphyrin III dihydrochloride, 2-vinyl-4-hydroxymethyl deuteroporphyrin IX dihydrochloride, deuteroporphyrin IX, protoporphyria IX, and a porphyrin marker kit containing a mixture of uroporphyrin, coproporphyrin, and hepta-, hexa-, and pentacarboxylic acid porphyrins of the I isomer series.
The plasma porphyrins in samples from patients with VP were normal or showed a slight increase of uroporphyrin III.
We found a greater increase of plasma uroporphyrin I compared with uroporphyrin III in renal failure, similar to the reports of Seubert et al.
Plasma porphyrins in the porphyrias

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