Neuropathic pain in hereditary coproporphyria
. Pak J Med Sci 2013;29(2):672-674.
Fecal coproporphyrin isomers in hereditary coproporphyria. Clin Chem 1992;38:96-100.
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.
There was no biochemical evidence to support a diagnosis other than VP; in particular there was no evidence of AIP, hereditary coproporphyria
, PCT, or a dual porphyria in which certain features of PCT, notably high concentrations of urinary uroporphyrin and heptacarboxylic porphyrin and fecal isocoproporphyrin, accompany the biochemical features of VP (23).
Porphobilinogen (PBG)  excretion in urine increases in acute porphyric attacks, and the measurement of PBG is particularly important in diagnosing the acute porphyrias (acute intermittent porphyria, hereditary coproporphyria
, and variegate porphyria) during the acute stage (7, 8).
Hereditary neuroporphyrias [aminolevulinate dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria
, or variegate porphyria (VP)], and lead poisoning (LP), which is thought to be an acquired form of neuroporphyria, are characterized by enzymatic inhibitions along the heme biosynthetic pathway (1-3).
Acute hepatic porphyrias (acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria
(HCP)) are inherited disorders of the heme biosynthesis pathway, which usually cause life-threatening acute attacks consisting of severe abdominal pain, nausea, vomiting, acute neuropathy, muscle weakness, even mental disturbances.
Characterization by mutational analysis of suspected cases of VP should be considered an important clinical diagnostic tool because of the similarities in clinical presentation of VP, porphyria cutanea tarda (PCT), and hereditary coproporphyria
. Furthermore, the use of DNA diagnostic methods enables detection of latent or asymptomatic mutation carriers at risk of developing VP.
It should be noted that no single test covering all porphyric possibilities exists and that caution is due: If porphyria is suspected, testing for porphyrins might not even yield an answer because in the inducible porphyrias (acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria
), assays for porphyrin precursors ([partial derivative]-amino levulinic acid and porphobilinogen) are by far more helpful.